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The authors evaluated the efficacy of acetazolamide (ACZ) and furosemide (FUR) in avoiding ventricular shunting procedures in preterm infants with posthemorrhagic hydrocephalus (PHH) and increased intracranial pressure (ICP). Preterm infants were screened for PHH (defined as ventriculomegaly [VM] and increased ICP measured with the Ladd fiberoptic monitor). PHH infants were randomized to ACZ and FUR treatment or serial lumbar puncture (LP) and monitored until not receiving medications or having undergone shunting. Of 69 infants with IVH screened for the study, 39 never developed VM, 14 developed VM, without increased ICP, and 16 developed PHH. Ten PHH infants were randomized to ACZ and FUR treatment and six to serial LP. Nine (90%) of the 10 infants assigned to the ACZ and FUR group avoided shunting. Nephrocalcinosis developed in a significant proportion of treated infants. Three (50%) of the six LP group infants did not require shunting procedures (P = 0.118). The authors conclude that ACZ and FUR therapy is useful in the treatment of preterm infants with PHH. Because a significant number of infants treated with both ACZ and FUR developed nephrocalcinosis, close monitoring for increased calcium excretion in the urine, or use of ACZ without FUR, is advised.

Furosemide and acetazolamide are often used concurrently to treat posthemorrhagic hydrocephalus in premature infants with intraventricular hemorrhage. Eleven premature infants with posthemorrhagic hydrocephalus were monitored for the development of hypercalciuria during treatment using urine calcium/creatinine (Ca/Cr) ratios (normal: less than or equal to 0.21). Seven of 11 infants (64%) developed hypercalciuria; 5 of those 7 infants had nephrocalcinosis on renal ultrasonography. Infants who developed nephrocalcinosis had urine Ca/Cr ratios of 0.5-4.0. In all 5 infants with nephrocalcinosis, renal calculi decreased and urine Ca/Cr improved after drug therapy was discontinued. The combined use of acetazolamide and furosemide as therapy for posthemorrhagic hydrocephalus places premature infants at high risk for nephrocalcinosis. It is suggested that urine Ca/Cr be monitored closely in infants receiving these drugs and that other treatment modalities be considered when the urine Ca/Cr ratio exceeds 0.21.

Of 737 patients with Down syndrome, newborn to 22 years of age, 47 had a history of at least one seizure. Of those, 24 children had seizures with an identifiable etiology, usually related to a common medical complication of Down syndrome: neonatal hypoxia-ischemia, hypoxia from congenital heart disease, or infection. These acute medical illnesses may precipitate seizures in brains already predisposed to hyperexcitability because of abnormal neuronal development. It is recommended that all Down syndrome children with seizures undergo investigations to determine the etiology of the seizure.

The evoked potentials and cranial computed tomographic (CT) scan findings in a case of early infantile globoid cell leukodystrophy are presented. The brain stem auditory evoked responses (BAERs) and the flash visual evoked potentials (VEPs) were abnormal. Repeated cranial CT scans showed multiple areas of increased attenuation and progressive cerebral atrophy. These evoked potential and CT scan patterns occurring concomitantly in an infant are suggestive of globoid cell leukodystrophy.

Three breast-fed infants of primiparous women had hypothermia, azotemia, and severe dehydration and malnutrition. No disease entities were identified. Although the cause of inadequate breast nutrition was unclear, these cases underscore the necessity for close follow-up and support of first-born breast-feeding babies.

A 6-month-old girl developed intermittent dystonic posture of the legs and eczematous dermatitis without ataxia. Qualitative and quantitative urine amino acid testing confirmed the diagnosis of Hartnup disease. Cranial computed tomography, electroencephalogram, electromyogram/nerve conduction study, posterior tibial somatosensory evoked potentials, 24-hour electroencephalographic telemetry, and metrizamide myelogram were normal. Spinal fluid hydroxy-indoleacetic acid concentration was less than or equal to 2 S.D. of normal; oral tryptophan loading (70 mg/kg) resulted in a two-fold rise in cerebrospinal fluid 5-hydroxy-indoleacetic acid concentration. Tryptophan administered alone or with nicotinic acid failed to improve the dystonia; however, trihexyphenidyl (1-2 mg/kg/day) dramatically improved it. Hartnup disease should be considered in children with unexplained dystonia.