Journal of Pathology and Translational Medicine

Case Study

Pulmonary Arteriovenous Fistula: Clinical and Histologic Spectrum of Four Cases: Soomin Ahn, Joungho Han, Hong Kwan Kim, Tae Sung Kim; J Pathol Transl Med. 2016;50(5):390-393. Published online May 9, 2016; DOI: https://doi.org/10.4132/jptm.2016.04.18

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Pulmonary arteriovenous fistula (PAVF) is abnormally dilated vessels that provide a right-to-left shunt between pulmonary artery and pulmonary vein and is clinically divided into simple and complex type. Here, we report four cases of surgically resected sporadic PAVFs presenting various clinical and histologic spectrums. Cases 1 (a 57-old-female) and 2 (a 54-old-female) presented as incidentally identified single aneurysmal fistulas and the lesions were surgically removed without complication. On the other hand, case 3 (an 11-old-male) showed diffuse dilated vascular sacs involving both lungs and caused severe hemodynamic and pulmonary dysfunction. Embolization and surgical resection of the main lesion failed to relieve the symptoms. Case 4 (a 36-old-male) had a localized multiloculated cyst clinically mimicking congenital cystic adenomatoid malformation. Microscopically, the lesion consisted of dilated thick vessels, consistent with the diagnosis of fistulous arteriovenous malformation/hemangioma.

Citations

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Case Reports

Bilateral Frontal Polymicrogyria: An Autopsy Case Report.: Yi Kyeong Chun, Jong Sun Choi, Je G Chi; Korean J Pathol. 2011;45:S62-S65.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.S1.S62

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Abstract PDF: Bilateral frontal polymicrogyria is a recently recognized syndrome characterized by symmetric polymicrogyria of both frontal lobes that presents with delayed motor and language development, spastic quadriparesis, and variable mental retardation. However, the postmortem findings of this syndrome are not fully elaborated. Here we describe an autopsy case of bilateral frontal polymicrogyria in a male fetus delivered at 22 weeks gestation due to extensive chorioamnionitis. The microscopic findings included a thinned cortical plate with fair neuronal maturation. There were no signs of neuronal damage and the white matter was unremarkable.

Coexistence of Intrapulmonary Bronchogenic Cyst and Congenital Cystic Adenomatoid Malformation: A Case Report.: Mee Hye Oh, Eun Ah Jung, Ji Hye Lee, Hyun Deuk Cho, Ki Hyun Seo, Seock Yeol Lee, Young Tong Kim; Korean J Pathol. 2011;45(1):92-95.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.1.92

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Abstract PDF

Congenital cystic lesions of the lung are uncommon and a conjunction of two or more lesions is very rare. We report here on a case of coexisting intrapulmonary bronchogenic cyst and congenital cystic adenomatoid malformation in a 13-year-old female with a cystic mass in the right upper lobe of the lung. Computed tomography showed a cystic lesion measuring 2.5 cm with an air fluid level and surrounding multicystic lesions in the right upper lobe. On gross examination, the cut surface showed a cystic mass containing inspissated mucinous material, and the cystic mass was surrounded by multiple small cysts. Microscopically, the larger cystic cavity was lined with pseudostratified ciliated columnar epithelium. The submucosal tissue contained mucinous glands and plates of cartilage. The surrounding smaller cysts or irregular spaces were lined with bronchiolar-type respiratory epithelium. We propose that this hybrid lung lesion may represent the missing link in a common embryologic pathway determined by the timing of mesenchymal and epithelial interactions.

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Case 2: Coexisting Cystic Lesions of Lung in a Term Neonate: A Management Dilemma
Bichitrananda Raut, Aakriti Soni, Susanta Kumar Badatya, Satish Saluja, Manoj Modi, Arun Soni
NeoReviews.2018; 19(9): e542. CrossRef

Original Articles

Histologic and Immunohistochemical Study of Cutaneous Vascular Disorders.: Jai Hyang Go, Hoon Jin, Dong Hwan Shin, Kwang Gil Lee; Korean J Pathol. 1995;29(3):327-333.

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Abstract PDF: There is a wide array of designation for cutaneous vascular disorders based on clinical characteristics, histology, embryology, cellular biology, and hemodynamics. The cutaneous vascular disorders can be divided into hemangioma and vascular malformation according to the biologic classification based on cell kinetics i.e. endothelial hyperplasia. There are clinical and histologic differences between them. In this study, clinical, histologic and im-munohistochemical evaluations were attempted on 40 cases of cutaneous vascular disorders diagnosed the period between 1985 and 1993. The results are as follows: 1) Twenty-three out of forty cases were immunoreacive for proliferating cell nuclear antigen(PCNA). The lesions composed of capillary-sized blood vessels with endothelial hyperplasia were diffusely reactive, whereas those composed largely of dilated blood vessels with or without focal endothelial hyperplasia were only focally reactive. 2) Each groups of the classic classification contained both reactive and nonreactive cases except nevus flammeus and juvenfle hemangioma. 3) In contrast to the cases nonreactive for PCNA, those reactive for PCNA contained areas of proliferating small vessels, which showed reactivity for PCNA. In conclusion, the cutaneous vascular disorders diagnosed by the classic classification are heterogeneous in the pattern of the endothelial hyperplasia and the PCNA staining. Therefore it should be classified by the clinical and the histologic characteristics.

Congenital Cystic Disease of the Kidney overview and a classification.: Mee Joo, Yeon Mee Kim, Chong Jai Kim, Yeon Lim Suh, Jeong Wook Seo, Je Geun Chi; Korean J Pathol. 1997;31(3):233-243.

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Abstract PDF: The congenital renal cystic disease encompasses a complex group of pathologic and clinical entities. We retrospectively reviewed 42 cases of congenital renal cystic lesions classified into four Potter types in a series of 2,063 consecutive autopsies from 1981 to 1996. According to our study based on morphologic, clinical, genetic features and associated anomalies, type I and III are relatively compatible with Potter's original definition. However, it was reasonable that type II and IV are classified to the same group because of: 1) very similar histologic findings representing dysplastic kidney, 2) many associated anomalies, 3) no evidence of inheritance, and 4) presence of a combined type. Syndrome associated cysts, such as Meckel-Gruber syndrome, were also separately classified. If the dysplastic evidence was insufficient for diagnosis to the dysplastic kidney in type II and IV, then these cases would be better classified into a cystic disease associated with congenital hydronephrosis. We propose a classification of the congenital cystic disease of the kidney to be: 1) dysplastic kidney, 2) cystic disease associated with congenital hydronephrosis, 3) polycystic kidney, and 4) syndromic cystic disease.

Case Reports

Holoacardius Hemisomus Acephalus: A case report.: Tae Jin Kim, Chong Jai Kim, Sung Hye Park, Suk Keun Lee, Je G Chi; Korean J Pathol. 1989;23(4):487-489.

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Abstract PDF: An autopsy case of holoacardius hemisomus acephalus is reported. She weighed 2,190 gm and the height was 38 cm. The head and upper extremities were absent, while the vertebrae and lower extremities were relatively well developed, but severely edematous. The heart, lungs, stomach, liver, spleen, and pancreas were missing, but the lower abdominal organs including kidneys, adrenal, urinary bladder, and genital organs were present. The intestine was blind-ended at jejunal level but opened into a normal anus. The umbilical cord had two arteries and one vein.

VATER Association: Three autopsy case reports with imusual defects.: Mi Ja Lee, Myeong Cherl Kook, Je G Chi; Korean J Pathol. 1995;29(5):678-683.

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Abstract: VATER association represents vertebral defects, anal atresia, tracheo-esophageal fistula with without esophageal atresia, renal defects and radial limb dysplasia. The probability of the simultaneous occurrence of any three of these defects is so unlikely that it suggests a sporadic non-random association. This non-random association appears to be related to some chromosomal anomalies, the caudal regression syndrome, mesodermal defects in early developmental period or the matemal use of sex hormones during embryogenesis. We report three autopsy cases of the VATER association that showed most of the known major and minor defects as well as an unusual concurrence of other defects, i.e., scoliosis, talipes varus, absent penis, urethral agenesis and stenosis, rectourethral fistula, rib anomaly, single umbilical artery, Meckel's diverticulum, diaphragmatic hemia, absent rectum, short neck, simian crease, low set ear, and hypoplastic lung.

Original Article

Congenital Bronchopulmonary Foregut Malformation: Analysis of the surgical and autopsy cases.: Sung Hye Park, Je G Chi; Korean J Pathol. 1993;27(5):459-467.

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Abstract PDF: Because early embryonic development of the tracheobronchial tree and foregut are closely associated, there is a wide spectrum of congenital anomalies involving either one or both organ systems. We analysed a total of 89 surgical and autopsy cases that are assumed to belong to congenital bronchopulmonary foregut malformation from the files of Seoul National University Hospital and Children's Hospital during the periord of 1961~1990. We also reviewed the serial sections of the embryos and fetuses from 3 weeks to fifteen weeks fertilization age for the observation of tracheobronchial and esophageal trees. Intralobar sequestrations(25 cases) and extralobar pulmonary sequestrations(4 cases) with patent, involuted-partial or complete-communication with the alimentary tract, tracheoesophageal fistula(30 cases) with or without esophageal atresia, esophageal atresia, esophageal stenosis due to tracheobroncheal remnant(4 cases), foregut duplication cysts(3 cases), esophageal or gastric diverticulum(1 cases), and bronchogenic cysts(22 cases) are included in this analysis(Table 1). Through this study, we confirmed the unifying concept of "bronchopulmonary forgut malformations". We believe a common embryologic pathogenesis leads to the formation of a previously described spectrum of malformations.

Case Reports

Laryngeal Atresia with Tracheoesophageal Fistula: 1 case report.: Eun Kyung Kim, Je G Chi; Korean J Pathol. 1993;27(5):504-508.

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Abstract PDF: Laryngeal atresia is a very rare congenital anomaly requiring immediate tracheotomy. We present a case of laryngeal atresia with tracheoesophageal fistula who showed immediate respiratory difficulty after ligation of umbilical cord and died of aspiration pneumonia at 8 days of age. The atretic portion of larynx is composed of irregulary arranged cartilaginous tissue, bundles of intrinsic muscle and soft tissue without epithelium-lined lumen. The lungs show normal development and evidences of aspiration pneumonia.

Synchronous Development of Gastrointestinal Stromal Tumor and Arteriovenous Malformation in the Jejunum: A Case Report.: Sang Hwa Shim, Yoon Hee Han, Ji Eun Kwak, Sun Hee Chang, Hanseong Kim, Je G Chi, Mee Joo; Korean J Pathol. 2008;42(3):185-188.

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Abstract PDF: Vascular malformations associated with neoplasms are extremely rare. Herein we report an extraordinary coincidence of arteriovenous malformation (AVM) and gastrointestinal stromal tumor (GIST) in the jejunum. A 44-year-old woman presented with melena and anemia. Abdominal computed tomography revealed a highly vascularized, strong early arterial enhancing soft tissue mass in the jejunum, which was confirmed by angiography to be an AVM supplied by the distal jejunal branch of the superior mesenteric artery. An emergency operation was performed due to active gastrointestinal (GI) bleeding. The resected jejunum showed a protruding, mostly solid subserosal mass. The mass was confirmed to be a spindle cell type GIST and was intermingled with the AVM located in the overlying submucosa and muscularis propria. To our knowledge, this is the first reported case of an AVM associated with a GIST. This case masqueraded radiologically as an AVM alone and presented clinically with GI bleeding.

Limb-Body Wall Malformation Complex: Two autopsy cases and its pathogenesis.: Geun Shin Lyu, Nam Hoon Kim, Eun Kyung Hong, Jung Dal Lee; Korean J Pathol. 1993;27(6):638-644.

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Abstract PDF: Limb-body wall malformation complex(LBWC), also know as the amniotic band syndrome, is a poorly defined, sporadic group of congenital anomaly characterized by a collection of protean fetal malformation, deformation and disruption. Accurate diagnosis is often difficult because of its variable presentation pattern and the absence of exactly same case. We report two autopsy cases. One revealed body wall, cardiac, and craniofacial anomalies with anencephaly, and amniotic adhesive band attached to craniofacial defect of the fetal part without evidence of amniotic rupture. The other exibited abdominal wall defect with omphalocele, visceral, postural, and limb anomalies together with neural tube defect in the lumbosacral region. The pathogenesis of this syndrome was discussed in detail.

Original Article

Cystic Hygroma of the Neck Pathologic study of 26 autopsy cases.: Yeon Lim Suh, Je Geun Chi; Korean J Pathol. 1997;31(12):1256-1263.

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Abstract PDF: Cystic hygroma is a congenital malformation of the lymphatic system appearing single or multiloculated fluid-filled cavities, most often around the neck. They often progress to hydrops and cause fetal death, and frequently associated with chromosomal abnormalities and other congenital malformations. The purpose of our study is to delineate the nature of cystic hygroma and determine the relationship between cystic hygroma and associated anomalies including fetal hydrops. We used data from 26 cases of cervical cystic hygroma in autopsy files of SNU Children's Hospital. Most of cystic hygroma were found in stillborn or premature infants. The fetal cases had been dead for a quite a long period since there was discrepancy between the true gestational age and the developmental age estimated from the body length. Of 26 fetuses only 2 were studied chromosomally and both of them showed 45X. Of 26 cystic hygromas 23 occurred in the posterior neck and 3 in the anterior neck. They ranged from 2.5 to 14 cm (mean: 7.9 cm). The cystic hygroma of the posterior neck consisted of two symmetric sacs on both sides and in the nape and extended to the occipital region. The cystic hygromas of the anterior neck were unilateral or bilateral, and multiloculated and extended into the adjacent cheek. Cystic hygromas of posterior neck were always associated with hydrops, while no recognizable hydrops was found in cystic hygromas of anterior neck. The cystic hygromas were larger in patients with severe hydrops than in patients with less severe hydrops. Associated abnormalities, found in 88%, included hydrops fetalis(88%), growth retardation(80%), cardiovascular anomalies(27%), horseshoe kidney(23%), skeletal anomalies(12%) and hypoxic changes(31%) in visceral organs. In summary, when a hygroma is detected during fetal life, careful sonographic examination for associated congenital anomalies, fetal karyotyping and consideration of artificial abortion are indicated.

Case Reports

Arthrogryppsis Multiplex Congenita: Pathologic examination of three autopsy cases.: Seung Sook Lee, Je G Chi; Korean J Pathol. 1994;28(1):56-64.

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Abstract PDF: Three autopsy cases of arthrogryposis multiplex congenita are studied. They were two deadborns and one neonatal death. All of them had characteristic abnormalities involving multiple joints. Neither primary myopathy nor abnormalities of anterior horn cells of the spinal cord were detected in our cases. However, two cases had minor central nervous system anomalies. All four cases showed pulmonary hypoplasia of varying degree. Two of three cases showed facial dysmorphism such as micrognathia and low set ears, and one showed cleft lip and palate. Ventricular septal defect, umbilical hernia and ureteral anomalies were also associated.

Adenocarcinoma Arising in Type 1 Congenital Cystic Adenomatoid Malformation: A Case Report and Review of the Literature.: Jinyoung Yoo, Sun Mi Lee, Ji Han Jung, Myeong Im Ahn, Deog Gon Cho, Seok Jin Kang, Kyo Young Lee; Korean J Pathol. 2008;42(6):396-400.

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Abstract PDF: Malignancies in congenital cystic adenomatoid malformations (CCAMs) of the lung are rare. We report a 41-year-old male patient with a pulmonary cystic lesion suspicious for CCAM, unrecognized until the patient was 40 years of age, and which subsequently became more consolidated during the interval between initial presentation and surgery. Microscopic examination of the resected specimen revealed features of type 1 CCAM with a mucinous adenocarcinoma, metastatic to the mediastinal lymph nodes. This case illustrates the importance of prompt surgical resection for all suspected CCAMs, especially those discovered in adulthood.

Well Differentiated Adenosquamous Carcinoma of Lung Mimicking Benign Lesions in Fine Needle Aspiration Cytology: Report of a Case .: Jong Yup Bae, Hoon Kyu Oh, Jae Bok Park; J Pathol Transl Med. 2004;15(2):101-105.

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Abstract PDF: Fine needle aspiration (FNA) cytological examination is an appropriate method for the evaluation of pulmonary nodules. In major types of lung cancer, its diagnostic accuracy is quite high. However, it is sometimes difficult, using this technique, to differentiate between some unusual phenotypes including adenosquamous carcinoma, bronchioloalveolar carcinoma (BAC), neuroendocrine tumor, mucoepidermoid carcinoma, and sclerosing hemangioma. Here, we present a case involving extremely well differentiated adenosquamous carcinoma, mimicking benign lesions, such as pulmonary scar and adenomatoid malformation with squamous metaplasia. The patient was a 68-year-old man presenting with a solitary pulmonary nodule (1.6x1.6 cm), which was incidentally found at the periphery of the right lower lobe. FNA revealed some clusters of glandular cells with minimal atypia, in addition to squamous cells at a nearly full maturational state. Histological examination verified the cytological diagnosis on a lobectomy specimen. The tumor exhibited a well differentiated adenocarcinoma component, mimicking the bronchioles in scarred lung tissue, and a well differentiated squamous cell carcinoma component, mimicking the squamous cell nests of adenoacanthoma, in the other organs. In the present case, the possibility of adenosquamous carcinoma should have been considered if squamous cells were seen in the FNA from the peripheral pulmonary nodule, even though they appeared to be benign.

Original Articles

Congenital Cystic Adenomatoid Malformation of the Lung: Clinicopathologic analysis of 22 cases.: Young Lyun Oh, Yeon Lim Suh, Je G Chi; Korean J Pathol. 1994;28(3):219-227.

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Abstract: Congenital cystic adenomatoid malformation of the lung(CCAML) is a rare developmental anomaly characterized by an "adenomatoid" hyperplasia of terminal respiratory structures with formation of the cysts of varying sizes. CCAML is separated into three major types based on the gross and microscopic findings. We have analyzed 22 cases of CCAML, those consisted of 6 autopsy cases and 16 surgical specimens. Out of 22 cases, 5 cases were composed of large cysts(type I) and 9 cases had multiple small cysts(type II). Remaining one case revealed features of solid type(type III), and 7 cases were mixed form. There were 16 boys and 6 girls. All cases were below the age of 14 years. There was no clear-cut age difference between different types of CCAML. However, inflammation, fibrosis and pseudostratification of epithelium were often found in older age. All fetal autopsy cases of CCAML had hydrops fetalis and were associated with maternal hydramnios. One case of type III showed definite mucinogenic cells in the cysts unexpectedly, and one case of the mixed form(typeI+II+III) was found in a fetus of 22 weeks of gestational age. Above findings contradicted the classical description of the CCAML, and suggested that arbitrary classification into three types may not be the best way in understanding this condition.

Immunoexpressions of Thyroid Transcription Factor-1 and bcl-2 in Congenital Cystic Adenomatoid Malformation.: Na Rae Kim, Dong Hoon Kim, Gou Young Kim, Dae Shick Kim, Joungho Han; Korean J Pathol. 2003;37(1):10-14.

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Abstract PDF: BACKGROUND
Congenital cystic adenomatoid malformation (CCAM) is a congenital abnormality of branching morphogenesis of the lung. Thyroid transcription factor-1 (TTF-1) is detected in human respiratory epithelial cells from 11 weeks of gestation, and at full term, TTF-1 expression is confined within type II epithelial cells and in some respiratory nonciliated bronchiolar epithelial cells. Immunoexpression of bcl-2 is intimately related to apoptosis during the development.
METHODS
To elucidate the nature of the lesion, TTF-1 expression was evaluated in twenty-four cases of CCAM (eight cases of type 1 and sixteen cases of type 2) along with immunostaining for bcl-2. For the control group, four cases of fetal lungs (19 week-, 21 week-, 27 week- and 40 week-gestational age) were also evaluated. In all cases of CCAM, TTF-1 was detected in the nuclei of epithelial cells lining the cysts.
RESULTS
TTF-1 was expressed in the majority of the bronchiolar-like epithelial cells of the cysts in CCAM types 1, and 2, where almost 100% of the lining cells of the cysts were TTF-1 positive with variable intensity, while negative TTF-1 expressions were found in the alveolar-like epithelium of the adjacent alveoli or distal nonciliated bronchi. For bcl-2 immunostaining, no lining epithelial cells of the cysts were stained except for the infiltrating lymphocytes. In the control group, strong immunoreactivities found in early fetal stages were absent in the full-term aged lung (40 gestational weeks).
CONCLUSION
These results support the hypothesis that CCAM types 1 and 2 reflect the abnormalities in lung morphogenesis and differentiation that are distinct from those for normally developed alveolar epithelium or adjacent bronchial epithelium, thus retaining the abnormal TTF-1 immunoreactions. Though restricted to CCAM types 1 and 2 in this study, CCAM might be related to TTF-1 rather than apoptosis in the morphogenesis of the developing lung.

Spinal Neurenteric Cyst of Foregut Origin.: Gyeong Hoon Kang, Je G Chi; Korean J Pathol. 1992;26(1):92-97.

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Abstract PDF: The neurenteric cyst with associated anomalies is the result of an ectoentodermal communication that exists during embryogenesis. The variety of lesions include intraspinal cysts, congenital vertebral deformities, thoracic cyst, malformations of the digestive tract, and occasionally, dysrhaphias of the sinodermal or myelomeningocele type. A case of intraspinal neurenteric cyst in a 3-year-old boy is presented. He presented with cyclic abdominal pain, fever and constipation of 30 days' duration. These symptoms progressed rapidly into gait disturbance and left hemiplegia. A single epithelial cyst, located ventral to the spinal cord in the lower thoracic region, traversed the cleft of spina bifida of thoracic vertebrae and connected to retromediastinal cyst. The inner cyst wall was lined with pseudostratified ciliated epithelia and a few squamous cells. The cyst wall contained well-developed muscle coat, myenteric plexuses, and scattered seromucinous glands.

Craniofacial Morphogenesis of Mouse with Trisomy 16.: Jung Sun Kim, Jeong Wook Seo, Suk Wha Kim, Je G Chi; Korean J Pathol. 1994;28(6):596-604.

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Abstract PDF: Based on the genetic homology between mouse chromosome 16 and human chromosome 21, experimentally induced trisomy 16 mouse has been considered to serve as a suitable model for human Down syndrome. Mice with trisomy 16 express several phenotypic characteristics of human trisomy 21 syndrome; i.e., intrauterine growth retardation, anarsarca, congenital heart disease, brain abnormality, etc. To elucidate morphogenesis of characteristic craniofacial malformation in human Down syndrome, we studied trisomy 16 mouse fetuses that were produced by crossing karyotypically normal C57BL/6 female ice with males carrying the two Robertsonian translocation chromosome Rb(16.17)/Rb(11.16). We examined a series of trisomy 16 conecptuses and their normal littermate controls from day 14 to day 18 of gestation by gross observation and serial microscopic sections. In addition to smaller size and generalized edema, we observed variable, but definite delay in brain and craniofacial development in trisomy 16 mice. The brain revealed less stratified telencephalon, underdeveloped thalamus and hypothalmus with relatively wide third ventricle, and small rhombencephalon. Craniofacial underdevelopment was characterized by persistent open eye, cochlea with fewer turns, delayed closure of the palate, more simple nasal cavity, etc. The tongue was shorter and convex upward, that were especially prominent at 14 days of gestation. The convex tongue and underdeveloped brain made the cranial base convex upward, and the angle between the cranial base an vertebral axis more obtuse. Small head with increase cephalic index and midfacial hypoplasia appeared to account for brain underdevelopment.

Case Report

Arteriovenous Malformation of the Uterus: A case report.: Mi Seon Kwon, Seok Jin Kang, Byung Kee Kim, Sun Moo Kim, Sang In Shim; Korean J Pathol. 1996;30(10):943-946.

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Abstract PDF: Arteriovenous malformation of the uterus is rarely encountered. It is potentially lethal because of profuse, uncontrollable bleeding at the time of diagnostic dilatation and curettage. To our knowledge, only 38 cases of localized uterine arteriovenous malformation have been reported in English and Korean literature. Recently we experienced a case of uterine arteriovenous malformation in a 28-year-old multiparous woman. Under the clinical impression of uterine tumors or arteriovenous malformation, a total hysterectomy was done. Gross examination demonstrated a vascular nature of the mass in the posterior wall of the fundus. Microscopically, there was an ill-defined mass composed of numerous irregular, anastomosing large vessels with various diameters.

Original Articles

Neurofilament Protein Subtype Expression in Neuronal Migration Disorders.: Hyun Sik Oh, Yoo Duk Choi, Hyun Joong Kim, Kyung Hwa Lee, Myoung Kyu Kim, Young Jong Woo, Jae Hyu Kim, Min Cheol Lee; Korean J Pathol. 2003;37(6):413-420.

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Abstract PDF: BACKGROUND
Neuronal migration disorder (NMD) is one of the causes of medically intractable epilepsy. As neurosurgical treatments for medically intractable epilepsy have expanded recently, precise histopathologic diagnosis is required. Histopathologic grading of NMD is important due to its association with neocortical development and expectation of prognosis. Many studies revealed abnormalities of neuronal cytoskeletal protein in abnormal neuronal cells of NMD.
METHODS
We performed immunohistochemical staining for neurofilament protein (NF) subtypes, one of the neuronal cytoskeletal proteins, and investigated the staining pattern of specific cells in each grade of NMD.
RESULTS
NF-L was more intensely labeled in perikarya, dendrites, and axons of normal or small sized dysplastic neurons, cytomegalic neurons, and balloon cells than of normal-looking neurons. Furthermore, positive reaction was more intense in high-grade lesion. NF-H and NF-M were mainly positive in the axons of gray and white matter and weakly positive in a few cytomegalic neurons and some balloon cells.
CONCLUSION
NF-L is a better marker than NF-H and NF-M for the detection of normal or small sized dysplastic neurons, cytomegalic neurons, and balloon cells and for grading of NMD.

Limb-Body Wall Malformation Complex with Absence of External Genitalia.: Jeong Hee Lee, Hyun Ju Kim, Gyung Hyuck Ko, Dong Jin Lee, Jong Hwa Kim; Korean J Pathol. 1995;29(2):248-250.

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Abstract PDF: The limb-body wall malformation complex is a sporadic congenital anomaly characterized by protean manifestations. The diagnosis is based upon the presence of at least two out of craniofacial anomaly, body wall defect, and limb abnormalities. We present a case of limb-body wall malformation complex. This case shows abdominal and pelvic wall defects with eventration of the viscera. It also shows an absence of right kidney, polycystic left kidney, absence of external genitalia and anus, and lower extremity abnormalities. The right lower extremity is absent and the deformed left leg shows malformed foot-like structure attached to the shin in addition to a normally positioned left foot. Our patient is the first case of complete absence of the external genitalia associated with limb-body wall malformation complex in Korean publications and the seventh in English publications.

Morphological Observation on the Prenatal Development of the Human Heart (I): Study on the Early Cardiac Development using Human and Chick Embryos.: Jeong Wook Seo, Je G Chi; Korean J Pathol. 1989;23(2):187-197.

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Abstract PDF: Normal embryonic development of human heart is studied with special emphasis to the formation of atrioventricular and ventriculoarterial connections and their significance in congenital heart disease. Twenty nine human embryos and 8 chick embryos are used in this study. Human embryos are analyzed by reconstruction of serial section slides and chick embryos are microdissected and examined by scanning electron microscopy. In the early cardiac development (Streeter horizon 12), bulbo-ventricular fold divided two ventricles first. The atrioventricular canal is incompletely divided and the canal was in contact neither with septum primum nor with ventricular septal crest. Infundibular and truncal septa were not seen. The division of A-V canal was observed during the stages 14-15. Septation of truncus arteriosus (Streeter horizon 15-17) was followed by septation of bulbus cordis (Streeter horizon 16-17). The shortening of mitral-aortic distance and downward left shift of aortic valve occured after the trunco-infundibular septation and finally the secondary interventricular formen closed at the end of seventh week (Streeter horizon 20-21).

Morphological Observation on the Prenatal Development of the Human Heart (II): Analysis of Cardiac Skeleton with Special Emphasis to Their Relation to the Bulboventricular Malformation.: Jeong Wook Seo, Je G Chi, Kyung Phill Suh; Korean J Pathol. 1989;23(2):198-207.

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Abstract PDF: Two dimensional alignment of valves in the cardiac skeleton is studied using 49 fetal hearts. They are standardized with fixed length between the centers of mitral and tricuspid valves. The relations among the parameters and of wall thichness ratio are studied, especially by the change of gestational age, mitral aortic distance and pulmonary-aortic distance, the angles between the two lines and mitral-tricuspid line. Anterior shift of great vessels was seen in heart with gestational age less than 20 weeks. Long mitral-aortic distance showed anterior shift of the great arteries and left ventricle was relatively thicker than right ventricle. Narrow aortomitral-tricuspid angle denoted posterior shift of great vessels and thich right ventricle. Short pulmonary-aortic distance denoted antero-posterior alignment and posterior shift of the vessels and thick left ventricle. Left-right alignment of vessels was not associated with right-ward shift but only with pulmonic displacement to the left. By these observation abnormal alignment of valves in cardiac skeleton would be a basic defect in bulboventricular malformation and we could find basic difference of cardiac skeleton, between normal variation and abnormal heart.

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