Intestinal neuronal dysplasia type A.

Intestinal neuronal dysplasia is a rare cause of bowel obstruction in neonates and infants, the diagnosis of which poses a formidable challenge to both clinicians and pathologists alike. The importance of this entity lies not only in the fact that it mimics Hirschsprung's disease, but also in that untreated cases, particularly of type A, may prove fatal. The authors describe one such case of intestinal neuronal dysplasia of type A, which was diagnosed at autopsy.

A modified technique for the diagnosis of Hirschsprung disease from rectal biopsies.

BACKGROUND: A diagnosis of Hirschsprung disease requires the demonstration of acetylcholinesterase fibres on frozen sections obtained from snap frozen biopsies of the rectum. This histochemical technique is generally not available in laboratories in developing countries. We improvised on the methodology of tissue preservation to make the staining technique more user-friendly, economical and reliable in demonstrating acetylcholinesterase activity in fresh rectal mucosal biopsies for the diagnosis of Hirschsprung disease. METHODS: Between June 1999 and May 2002 fresh rectal biopsies from 40 suspected cases of Hirschsprung disease were processed for routine frozen section (not snap frozen by liquid nitrogen) and stained by the Karnovsky and Roots method. These sections were assessed for the staining pattern of acetylcholinesterase fibres. The thickness of the nerve fibres and muscularis mucosa was assessed morphometrically. These were compared with biopsies obtained from 6 age-matched controls undergoing surgery for unrelated complaints. RESULTS: The sections stained for acetylcholinesterase by this improvised method of tissue fixation were good and crisp. A definite diagnosis of Hirschsprung disease was made in 25 cases and intestinal neuronal dysplasia in 1. The remaining 14 cases showed an equivocal staining pattern with no hypertrophic nerve bundles, thus excluding a diagnosis of Hirschsprung disease. The mean thickness of the submucosal nerve trunks measured in these enzyme-stained sections was found to be inversely proportional to the mean thickness of the muscularis mucosa. CONCLUSION: Our study on cryostat-cut sections suggests an inverse relationship between the thickness of the muscularis mucosa and the calibre of the nerve trunk--thinner the nerve trunk, thicker the muscularis mucosa and vice versa. Also, routine frozen sections, instead of snap frozen ones taken from a fresh rectal biopsy and stained by the Karnovsky and Roots method for acetylcholinesterase activity, are reliable for the diagnosis of Hirschsprung disease and are within the capability of a simple histopathology laboratory in a developing country.

Isolated necrotising arteritis of the cervix and myometrium: a much neglected but puzzling entity.

Arteritis of the uterine cervix and corpus described here was an incidental finding at the routine histopathological examination of the hysterectomy specimen resected from a 62 year old female who underwent laparotomy for twisted ovarian cyst. Investigations and eleven months of follow up without any specific treatment for arteritis, have shown no systemic involvement. This case highlights that a knowledge of such isolated arteritis is of importance to the physician to avoid misdiagnosing it as polyarteritis nodosa and treat with systemic steroids.

Malignant pheochromocytoma with cutaneous metastases presenting with hemolytic anemia and pyrexia of unknown origin.

We describe a 43 year old female who presented with pyrexia of unknown origin associated with Coomb's negative hemolytic anemia and impaired liver function tests of six months duration. A routine abdominal computerised tomographic scan showed a mass in the left adrenal which was excised at laparotomy and histologically diagnosed as pheochromocytoma. The hemolysis continued to worsen with development of resistance to steroid therapy. Subsequently she developed multiple firm to hard painless cutaneous nodules which were aspirated for cytologic examination. The cytology picture was that of a neuroendocrine tumour with cell morphology similar to that of the adrenal pheochromocytoma. Such an association of hemolytic anemia, pyrexia and cutaneous metastases in a case of malignant pheochromocytoma has not been described earlier in the medical literature.

Hirschsprung's disease, associated rare congenital anomalies.

OBJECTIVE: Hirschsprung's disease may be associated with a number of congenital anomalies of which Down's syndrome and intestinal atresias are commonly encountered. The study aimed to assess the impact of rare associated anomalies on the diagnosis and management of Hirschsprung's disease. METHODS: A retrospective review of the clinical presentation, diagnosis and outcome of thirty five consecutive newly diagnosed cases of Hirschsprung's disease encountered over two years was performed. RESULTS: Besides Down's syndrome (two), intestinal atresia (one) and pigmentary ocular defects (two), three rare anomalies (Occipital meningocele, Calcific meconium cyst with anal stenosis, Malrotation) were encountered in four of thirty five cases. The clinical features, radiologic anatomy and gross morphology of the bowel were unconventional and the diagnosis was supported by intraoperative acetylcholinesterase staining of biopsies. Though the diagnosis was relatively delayed in these cases, the outcome has been comparable to the rest. The dilemma in their diagnosis and management and their possible pathoembryology is discussed. CONCLUSION: Awareness of such associations and a specific investigative protocol is imperative for timely diagnosis and minimal morbidity in complex presentations of Hirschsprung's disease.

Megacystis microcolon intestinal hypoperistalsis syndrome.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare cause of intestinal obstruction mainly affecting female neonates. We present a case of a newborn female infant with a history of abdominal distension, bilious vomiting and decreased urine output. Barium enema showed a microcolon. Patient died soon after admission and the autopsy revealed a shortened bowel, a microcolon with abundant ganglion cells in the myenteric plexus, and an enlarged urinary bladder. An interesting finding in this case was the presence of enlarged nerve bundles containing several large ganglion cells on the lateral wall of the cervix. The salient clinical and autopsy findings in this case are presented.

Combined hepatocellular and cystadenocarcinoma presenting as a giant cyst of the liver--a case report.

Primary cystic lesions of the liver are very rare. Most of the solid tumours are hepatocellular carcinomas (HCC) with a smaller number being cholangiocarcinomas. The association of HCC with other primary liver malignancies is also extremely rare. This case report is about a 27 year old male patient who presented with a giant cystic lesion of the left liver. A CT scan showed a cystic lesion with internal septations and a thrombus in the main portal vein. The patient underwent an extended left hepatectomy and a portal venotomy with removal of the thrombus. Coexistent hepatocellular and cystadenocarcinoma were reported on histopathological examination. The patient was put on 5-FU postoperatively. He is doing well 11 months after surgery.

Choriocarcinoma of the ovary in a post-menopausal woman.

A case of a Choriocarcinoma of the Ovary has been reported in a 50 year old post-menopausal woman. At laparotomy, the lesion was seen as a large necrotic ovarian mass. The problems of distinguishing Gestational from Non-gestational ovarian choriocarcinoma are discussed. Cytogenetic studies are indicated to investigate potential reasons for the difference in prognosis.