Alex E. Kan

Clinical phenotype of desmosterolosis.

We describe a child with lethal multiple malformations and generalised accumulation of desmosterol. The infant had macrocephaly, a hypoplastic nasal bridge, thick alveolar ridges, gingival nodules, cleft palate, total anomalous pulmonary venous drainage, ambiguous genitalia, short limbs, and generalised osteosclerosis. Gas chromatography-mass spectrometry demonstrated an abnormal accumulation of desmosterol in kidney, liver. and brain. Higher than normal levels of the same sterol were detected in plasma samples obtained from both parents. The biochemical phenotype in this infant is highly suggestive of a novel inborn error of cholesterol biosynthesis caused by an autosomal recessive deficiency of 3betahydroxysterol-delta24-reductase. A phenotypic overlap of this case with Raine syndrome was noted; however, desmosterol accumulation was not found on postmortem tissue samples from a previously reported case of this disorder.

Liver Disease and Common-Bile-Duct Stenosis in Cystic Fibrosis

To determine the incidence of common-bile-duct lesions and their relation to liver disease in cystic fibrosis, we performed hepatobiliary scanning in 50 of 61 patients with cystic fibrosis who had hepatomegaly, abnormal liver function, or both and in 31 of 92 patients with cystic fibrosis who did not have hepatomegaly or abnormal liver function. Ninety-six percent of the patients with liver disease had evidence of biliary tract obstruction, which was defined cholangiographically as a stricture of the distal common bile duct in the majority of cases. All the patients without liver disease had normal intrahepatic and common-duct excretion of tracer. Abdominal pain was significantly more common in patients with common-duct obstruction (P less than 0.001), and enlarged gallbladders occurred only in such patients. Since fasting levels of serum bile acids were elevated in nearly half these patients, irrespective of the severity of their liver disease, serum bile acids may be markers of the severity of the common-duct lesion. We conclude that strictures of the distal common bile duct are common in patients with cystic fibrosis and liver disease. This association requires further study, since surgical relief of common-duct obstruction may prevent or ameliorate the hepatic complications of cystic fibrosis.

Juvenile hyaline fibromatosis: an expanded clinicopathologic spectrum.

Abstract: A female infant had the typical cutaneous and soft tissue lesions of juvenile hyaline fibromatosis with the characteristic histologic and ultrastructural features of the disease. Her clinical course and autopsy findings strongly resembled those of infantile systemic hyalinosis, suggesting that the two conditions may be parts of a spectrum.

Renal proximal tubular dysgenesis associated with severe neonatal hemosiderotic liver disease.

We report the necropsy findings for three infants with the unusual combination of proximal renal tubular dysgenesis and severe congenital liver disease with excessive iron in several organs resembling neonatal hemochromatosis. Two of the infants were caucasian siblings and one was an Australian aborigine. One died in utero at 35 weeks of gestation and two died at 7 days. The liveborn infants presented with anuria and liver failure. The livers all showed marked loss of hepatocytes and replacement by pseudotubules in the collapsed lobules. The liveborn infants also showed giant cell transformation of hepatocytes, small regenerative nodules, cholestasis, and normal bile ducts. Absence of proximal renal convolutions was confirmed by epithelial membrane antigen positivity in nearly all tubules. In each family there was another sibling with congenital liver disease, fatal in one case, but no renal tubular dysgenesis. No infection or metabolic disease was uncovered in any of our patients, and the cause of the hepatocyte destruction was not determined. The combination in three infants of two rare congenital diseases could be genetic or acquired in utero from the same etiological agent. Alternatively, the absence of proximal convolutions could be secondary to hypoperfusion, perhaps because of shock due to extensive necrosis of hepatocytes.

Gastric heterotopia causing airway obstruction

Two infants are reported each with a mass of heterotopic gastric tissue in the hypopharynx causing airway obstruction. Endoscopic laser removal of the tumours proved a satisfactory method of treatment. Gastric heterotopia in the head and neck region is rare but should be considered as a cause of stridor in infants.

Benign juvenile xanthogranuloma of the larynx.

Benign juvenile xanthogranuloma is a normolipaemic, self-limiting condition usually presenting with cutaneous, orbital or occasionally with visceral lesions. It is one type of histiocytosis, a term referring to a group of non-inflammatory, proliferative disorders of the monocyte/macrophage and dendritic cell systems [7]. We report a case of benign juvenile xanthogranuloma occurring in the larynx, a location not previously described.

Nodular fasciitis of the nose in a child

Nodular fasciitis is an unusual benign tumour composed of fibroblasts. It presents as a rapidly growing mass arising from subcutaneous or deep fascia. Less than 20% of cases occur in children. Diagnosis can only be made by histopathological examination of a biopsy of the lesion. A case of nodular fasciitis presenting as a mass arising from the right nasal cavity in a 19-month-old female is presented. The lesion was successfully eradicated by surgical removal. There has been no recurrence at 4-year review. Nodular fasciitis is a benign condition that may mimic malignancy clinically and histologically. Recognition of this condition is important to avoid unnecessarily aggressive treatment. Relevant clinical, radiological and histological features are discussed.

Giant centrifugal miliaria profunda.

Abstract: A 4‐month‐old developed rapidly enlarging, white plaques up to several centimeters in diameter in areas where occlusive tape had been applied, almost all on the sites of venous or arterial punctures. Microscopy demonstrated the features of miliaria profunda, with sweat duct occlusion and evidence of extravasation of sweat into the dermis. This clinical entity has not been described previously, and we suggest the name giant centrifugal miliaria profunda.

TI-201 positive, Ga-67 negative hepatoblastoma : A case report of a 12-year-old boy

Hepatoblastoma is a primary liver neoplasm in which prompt diagnosis and resection are critical to long-term survival. Nuclear scintigraphy plays an important role in the characterization of hepatic masses. The authors present an unusual case of hepatoblastoma in a 12-year-old boy in whom Ga-67 scintigraphy and serum alpha-fetoprotein were negative. Positive Tl-201 scintigraphy pointed toward the true malignant nature of the mass and should be considered in the investigation of hepatic masses in childhood.