Pseudo-Chediak-Higashi anomaly in a child with a hepatic vascular malformation

A case of a congenital hepatic vascular malformation in a child complicated by disseminated intravascular coagulation and hemolytic anemia is presented. Examination of the peripheral blood disclosed the presence in the leukocytes of giant intracytoplasmic inclusions resembling those of the Chediak-Higashi anomaly. Ultrastructural analysis characterized those inclusions as phagocytosed red cell debris, a result of mechanical destruction of the red cells.     

Aggressive hepatic angiomyolipoma in a child

Angiomyolipoma is a tumor of the kidney and, more rarely, the liver, which histologically consists of smooth muscle cells, adipose cells, and abnormal blood vessels in varying proportions. This tumor is generally benign and resection is curative, but here the authors present the case of a 14-year-old girl with an unusual primary hepatic angiomyolipoma that recurred following resection and behaved aggressively. Despite stabilization with a number of novel therapies, the child ultimately died of progressive disease.     

Preoperative ultrasonographic diagnosis of a parathyroid adenoma in a child

The case of a young boy with primary hyperparathyroidism due to an adenoma is reported. The tumor was localized by ultrasonography, and a close correlation between the image and the surgical findings was found. Since primary hyperparathyroidism in children under 15 years of age is frequently due to adenomata larger than 1.5 cm it is suggested that ultrasonography of the neck should be included in the work-up of every children suspected to have this pathology.     

Idiopathic hepatic copper toxicosis in a child

A 10-year-old Italian boy with chronic liver disease and copper overload is described. Biological and histopathological findings are similar to those described in children with Indian childhood cirrhosis. This report suggests that a disease akin to Indian childhood cirrhosis but different from Wilson disease can be found in non-Indian children probably representing a new, possibly inherited, disease of copper metabolism leading to copper overload in the liver.     

Intermittent hyperaldosteronism in a child due to an adrenal adenoma

Aldosterone producing adenoma (APA) is a rare but potentially curable form of paediatric hypertension. We report a case of APA in a 9-year-old boy, suspected due to persistent hypokalaemia. Neither BP nor initial laboratory investigations disclosed the diagnosis and the presence of an APA was suggested by functional tests and radiological findings. Histologically, a cortical tumour was found associated with a marked medullary hyperplasia of both chromaffin and ganglion cells. Conclusion This case reinforces the need for further investigations in patients with misleading clinical and laboratory data. Received: 22 May 2000 / Accepted: 31 August 2000     

Spontaneous ruptured umbilical hernia in a child with hepatic cirrhosis and ascites

Spontaneous rupture of umbilical hernia is an unusual and rarely reported complication in the patient with hepatic cirrhosis and ascites, and it may be fatal. A literature search revealed that patients have been managed both operatively and nonoperatively for this condition. All of the reported cases in the literature were adults with liver disease and ascites. We present a first case of spontaneous rupture of an umbilical hernia in a child with cirrhosis and ascites, which was managed with primary repair of the hernia.     

Clinical, endocrinological and radiography features in a child with McCune-Albright syndrome and pituitary adenoma

McCune-Albright syndrome is a rare syndrome presenting with polyostotic dysplasia, cafe-au-lait spots and multiple endocrinopathies that is very often combined with precocious puberty. We examined the clinical, endocrinological and radiological features in a boy with McCune-Albright syndrome and pituitary adenoma. X-rays, magnetic resonance (MRI) scan, whole body scintigraphy, single photon emission computer tomography (SPECT) and 3D-reconstruction from bone SPECT was performed to evaluate clinical improvement after treatment with sandostatin and pamidronic acid. After a six-month period of treatment with sandostatin and pamidronate, bone scintigraphy revealed significantly reduced activity. Treatment with bromocriptine and methimazole led to normalization of prolactin and thyroid hormone levels. Mobility of the patient improved. A significant improvement as a result of treatment with sandostatin and pamidronic acid was found in this patient with generalized fibrous dysplasia. So far, this condition has been treated with pamidronate only in adults, but severely affected children also benefit from this treatment regimen.     

Muscular dystrophy misdiagnosed as hepatic disease in a child with coeliac disease

A 13-month-old boy presented with elevated serum aminotransferases and a flat small bowel mucosa indicating coeliac disease. He improved clinically on a gluten-free diet but serum aminotransferases continued to increase. This was found to be caused by an occult Duchenne muscular dystrophy. The case illustrates the fact that the finding of elevated serum aminotransferases in a coeliac child on a gluten-free diet should indicate that further investigations are needed to exclude coexisting disease.     

Extra hepatic portal vein thrombosis in a child associated with lupus anticoagulant

The presence of lupus anticoagulant has been implicated in venous as well as arterial thrombosis. We report here a 10-year-old boy who presented to us with hematemesis, malaena and splenomegaly. An ultrasound showed a recanalized portal vein with collaterals suggestive of portal vein thrombosis. He had grade IV esophageal varices. The liver function tests were normal. Investigations for prothrombotic factors showed that tests for PNH and for APC resistance were negative. Levels of anti-thrombin II and protein C were normal. There was a prolonged activated partial thromboplastin time with a normal prothrombin time. Presence of lupus anticoagulant was confirmed with dilute Russell viper venom time and platelet neutralization test. Repeat tests after 10 weeks showed persistence of the lupus anticoagulant. ELISA test for anti-phospholipid antibody was negative. The association of lupus anticoagulant with portal vein thrombosis in the pediatric age group is very rare.