Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy.

We report the clinical and autopsy findings of two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). The cases were unusual in that both patients presented with stroke-like episodes and neither patient had clinically evident myopathy, consequently in neither case was the correct diagnosis made during life. Despite the absence of myopathy clinically, at autopsy skeletal muscle showed the characteristic features of mitochondrial cytopathy. One of the patients, in addition to the features of MELAS, also had gastrointestinal involvement at presentation which was sufficiently severe to warrant surgery and a peripheral neuropathy.

Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.

Kabuki make-up syndrome (KMS) is a mental retardation/congenital malformation syndrome of unknown aetiology. We report a child with the unbalanced karyotype 46,XY,-6,+der(6)t(6;12) (q25.3;q24.31)mat. who has several features of KMS and suggest a possible cause for this condition.

Normal children with large heads--benign familial megalencephaly.

Fifteen normal children with large heads (circumference greater than 0.5 cm above the 98th centile) were studied. CAT scans were pefrormed to exclude hydrocephalus, and ventricular size was compared with that of hydrocephalic children. In 11 of the 13 families in which the parents' heads were measured, one parent (10 fathers and one mother) was found to have a large head, as had 6 of 17 siblings. Head circumference at birth was large in 7 of 10 babies and rate of head growth was excessive in 8 of 13. Skull x-ray showed suture diastasis in 7 infants. These families have a benign familial megalencephaly. It is important to recognise this so as to avoid unnecessary investigation and anxiety about normal children with large heads.

Computerised axial tomography and acute neurological problems of childhood.

The results of computerised axial tomography (CAT) in 80 children with neurological symptoms and/or signs of less than 3 months' duration are discussed in relation firstly to intracranial pathology and secondly to clinical presentation. 26 children had intracranial space-occupying lesions (tumour, abscess, haemorrhage, infarct). CAT was abnormal in 25 of these and diagnostic in 18. A further 20 children had meningitis or encephalitis, and CAT was abnormal in 12. In contrast with this high rate of scans showing pathology, CAT was abnormal in only 4 of the remaining 34 children who had less definite or no intracranial disease. Analysis of clinical presentation showed that 42 of 69 children presented with persisting neurological signs and of these, 25 had an intracranial space-occupying lesion and 29 had abnormal CAT. Only 5 of 27 children who had symptoms alone or signs lasting less than 24 hours had abnormal CAT, and no intracranial lesion requiring specific treatment was missed. CAT is useful for demonstrating the site, size, and nature of many lesions. The scan may not initially be abnormal in brain stem gliomas and in small subdural collections of fluid.

Hypertrichosis due to diazoxide.

Two cases of hypertrichosis due to diazoxide are described. The mechanism is unknown bu may be due either to increased cutaneous perfusion or to increased levels of cyclic AMP.

Studies on the structure and metabolism of glycogen in some abnormal human infants.

1. The liver and muscle tissues of 14 human anencephalic babies were examined for glycogen content and structure, and for the activities of several glycogen-metabolizing enzymes. 2. In both tissues glycogen content increased with gestation age; the muscle glycogens had a slightly but significantly lower degree of branching than the corresponding liver glycogens. 3. All the expected glycogen-metabolizing enzymes were present; acid maltase activities were higher and phosphoglucomutase activities were lower than the results reported for human adult tissues. Glucose 6-phosphatase activity increased significantly with gestation age.