A. M. Roodhooft

Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia

In a patient with methylmalonic acidaemia (MMAA), persistent neurological symptoms were observed in addition to the acute episodes of metabolic dysequilibrium. CT scan and magnetic resonance imaging revealed bilateral symmetrical necrosis of the globus pallidus. Different episodes of metabolic decompensation, one with severe acidosis, had occurred. Persistent neurological symptoms in patients with MMAA who are appropriately treated suggest irreversible brain damage which appears to occur preferentially at the level of the basal ganglia.

Acute sodium valproate intoxication: occurrence of renal failure and treatment with haemoperfusion-haemodialysis.

In a child who probably received an overdose of sodium valproate, progressive coma, intermittent tonic-clonic seizures and anuria developed. Laboratory investigations revealed coagulopathy, anaemia and mildly disturbed liver function. Progressive renal insufficiency, probably due to rhabdomyolysis and myoglobulinuria, occurred later. Treatment consisted of supportive measures, combined haemoperfusion and haemodialysis and IV thiopentone. Clinical and biochemical normalisation was observed after 11 days.

Recurrent haemolytic uraemic syndrome and acquired hypomorphic variant of the third component of complement

In a girl with recurrent haemolytic uraemic syndrome (HUS), persistently low serum levels of C3 were found. Analysis of complement phenotype revealed a hypomorphic variant of C3 Fast in the patient (C3fS) and a normal heterozygous pattern in both parents and the brother (C3FS). Other complement aberrations in the patient were: the presence of a null gene for C4A and C4B and low serum levels of factor H. The father also had partial factor H deficiency. It is hypothesized that the hypomorphic C3 variant may predispose to recurrent HUS. In the acquired forms the role of uraemia in alteration of C3F should be considered.

IDIOPATHIC ARTERIAL CALCIFICATION OF INFANCY

SummaryWe describe two twin sisters in whom calcification of different arteries was detected in the first weeks of life. Transient renal insufficiency, arterial hypertension, and skeletal abnormalities were also observed. One child had anasarca and heart decompensation at birth. Prenatal infarction of one kidney had occurred in the same infant. A kidney biopsy showed calcium deposits in all the layers of the arteries. Most findings in these patients are compatible with idiopathic arterial calcification of infancy (IACI). Investigation of calcium and phosphorus metabolism revealed spontaneously receding hypercalciuria, increased intraerythrocytic calcium levels, and transient X-ray abnormalities of the long bones. Treatment initially consisted of biphosphonate and later, the calcium antagonist flunarizin. A progressive diminution of the arterial calcification was observed in the course of both treatments.

Haemorrhagic shock and encephalopathy

Two infants are described with a fulminant disorder characterised by profound circulatory collaps and shock, generalised convulsions and unremitting coma, bleeding due to severe DIC, fever, diarrhoea, metabolic acidosis and renal and hepatic failure. Both infants died shortly after onset of the symptoms. Autopsy mainly revealed haemorrhages in different organs, anoxaemic lesions in the brain and a normal structure of liver and pancreas. No causative agent could be demonstrated.We believe that both patients suffered from haemorrhagic shock and encephalopathy, a mostly fatal disorder which has recently been described. Although the clinical and biochemical features are very distinctive, this syndrome is probably heterogeneous and its differentiation from some other dis-orders may be difficult. Its pathogenesis is unknown but there are some indications that intravascular activity of trypsin may play a role. During a study of the two families we obtained abnormal results of immunologic tests in most members: the interpretation of this finding remains conjectural.Haemorhagic shock and encephalopathy may occur more frequently than the restricted literature on this subject suggests. Future studies will have to deal with the question of identity and pathogenesis.

Benign ureteral fibrous polyp as a cause of obstruction in children.

In an 11-year-old boy with intermittent colicky flank pain for several years unilateral obstruction caused by benign ureteral fibrous polyps was found. The radiologic characteristics are discussed and the need for conservative surgery is stressed.

Abdominal colic due to ureteric diverticulum with stone formation

In a 15-year-old boy right lower abdominal colicky pain was caused by intermittent obstruction of the ureter by stones which had accumulated in a ureteric diverticulum. As was shown by repeated X-rays, each of these stones had moved to the ureter and back to the diverticulum. Ureteric diverticulum mostly remains asymptomatic in children: stone formation and obstruction of the ureter by the stones is one of the instances which may cause symptoms.