Hartnup disease. Clinical, pathological, and biochemical observations.

Hartnup disease is a rare genetic disorder of amino acid transport associated with variable and intermittent clinical abnormalities. A family is described in which three siblings had an intermittently progressive neurological disease and two of the affected siblings had the Hartnup-pattern aminoaciduria. Neuropathological examination of one case showed severe diffuse atrophy, generalized neuronal loss in the cortex, and Purkinje cell loss in the cerebellum. In vivo and in vitro studies of intestinal amino acid transport in the surviving sibling indicated a partial defect in the transport of several neutral amino acids (tryptophan, alanine, serine, and methionine) with normal transport of other neutral amino acids (threonine, phenylalanine, histidine, tyrosine, and isoleucine). Transport of glycine, proline, hydroxyproline, and the basic amino acids appeared normal.

Diagnosis and treatment of migraine in children.

We here enumerate criteria that we believe are suitable for the diagnosis of migraine in children. Using these criteria, we identified 84 children retrospectively, and studied their illness for 3 to 9 years thereafter. The majority were male, and 47 patients had frontal headaches. EEGs were performed in 64 children: 17 were paroxysmal, but 7 patients never developed seizures. Referral to a neurologist occurred when there was a marked increase in the frequency or severity of headaches. Irrespective of the form of treatment, about one-half of all patients had more than a 50% reduction in headache frequency in the 6 months following their initial visit to a neurologist.

A follow-up study of Sydenham's chorea.

Twenty-five patients convalescing from Sydenham's chorea were contrasted by clinical examination, electroencephalograms, and psychometric and psychologic tests to 15 siblings and 20 matched rheumatic fever controls. A group of 10 postchoreic patients who had two or more signs could be identified. Patients in this group had all the signs classified as moderate or severe, performed less well than other choreic subjects on the Bender gestalt test, and had a higher percentage of abnormal electroencephalograms but not a higher incidence of behavioral disorders. This subgroup could not be predicted from a review of neurologic history or from analysis of the acute episode of chorea. Our data would suggest that uncomplicated Sydenham's chorea is not necessarily a benign self-limited affliction of the central nervous system and that some patients are left with definite, albeit minimal, neurologic residua.

Steroid-responsive encephalomyelitis in childhood.

The syndrome of parainfectious encephalomyelitis evolves from an antecedent infection. Several etiologic agents have been associated with this complication, although the pathogenesis in each instance may prove to be more uniform. Considerable evidence suggests that the syndrome is mediated immunologically. The seven cases reported here were clinically similar, although the infectious etiologies were diverse. Leptospirosis antedated the neurologic syndrome in two cases, and a "viral" illness preceded the other five cases. The evolution of the syndrome was slowly progressive in each case, and six patients had prominent involvement of rhombencephalic structures. The progressive course was reversed rapidly with eventual full recovery in each instance after initiation of corticosteroid therapy. Our experience with these cases coupled with a review of the literature suggests that corticosteroid therapy should be considered in the subacute or chronic cases of parainfectious encephalomyelitis.

Total blindness after trivial frontal head trauma: bilateral indirect optic nerve injury.

A 10-year-old girl developed bilateral blindness and partial third nerve paresis immediately following a closed head injury. Bilateral optic atrophy developed subsequently. This is the first report of an association between second and third nerve injuries after minor head trauma in the absence of a preexisting lesion. The pathophysiology of indirect injury to the optic nerve under these circumstances is uncertain, but the lesions in this patient seemed to be due to ischemia.

Radionuclide imaging in subacute sclerosing panencephalitis.

Three patients with subacute sclerosing panencephalitis (SSPE)--two with acute disease and one with an exacerbation--had abnormal radionuclide brain scans during periods of rapid neurologic deterioration. In two of the three patients radionuclide brain scan showed lesions of both cortex and deeper structures, indicating the panencephalic nature of the disease. There was no contrast enhancement on computerized tomography (CT) in the areas of radiopharmaceutical accumulation in the two patients studied. We feel that delayed radionuclide scanning is more sensitive in detecting acute SSPE than routine contrast-enhanced CT, because more time is allowed for tracer accumulation in lesions and for background activity to decrease.

Practice parameter: evaluation of children and adolescents with recurrent headaches: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

OBJECTIVE: The Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society develop practice parameters as strategies for patient management based on analysis of evidence. For this parameter, the authors reviewed available evidence on the evaluation of the child with recurrent headaches and made recommendations based on this evidence. METHODS: Relevant literature was reviewed, abstracted, and classified. Recommendations were based on a four-tiered scheme of evidence classification. RESULTS: There is inadequate documentation in the literature to support any recommendation as to the appropriateness of routine laboratory studies or performance of lumbar puncture. EEG is not recommended in the routine evaluation, as it is unlikely to define or determine an etiology or distinguish migraine from other types of headaches. In those children undergoing evaluation for recurrent headache found to have a paroxysmal EEG, the risk for future seizures is negligible; therefore, further investigation for epilepsy or treatments aimed at preventing future seizures is not indicated. Obtaining a neuroimaging study on a routine basis is not indicated in children with recurrent headaches and a normal neurologic examination. Neuroimaging should be considered in children with an abnormal neurologic examination or other physical findings that suggest CNS disease. Variables that predicted the presence of a space-occupying lesion included 1) headache of less than 1-month duration; 2) absence of family history of migraine; 3) abnormal neurologic findings on examination; 4) gait abnormalities; and 5) occurrence of seizures. CONCLUSIONS: Recurrent headaches occur commonly in children and are diagnosed on a clinical basis rather than by any testing. The routine use of any diagnostic studies is not indicated when the clinical history has no associated risk factors and the child's examination is normal.

Progressive infantile axonal polyneuropathy.

Polyneuropathies are relatively uncommon in early infancy and the majority of affected children are found to have hypomyelinating neuropathies. Axonal sensorimotor neuropathies have been described in childhood but the majority of affected children present at or after 6 months of age, have nonprogressive courses, and achieve the ability to walk, albeit late. Here we present three infants with infantile progressive axonal polyneuropathy from two families with nonconsanguineous parents. Each child presented shortly after the neonatal period and with rapid progression to quadriplegia. Involvement of the lower cranial nerves, phrenic nerves, or both was present in each child. Electrophysiology was diagnostic in each child. While the diagnosis of spinal muscular atrophy was considered in each case, clinical presentation, biopsies, and genetic testing were inconsistent with this diagnosis. Recognition of this early form of progressive axonal neuropathy is important as respiratory compromise occurred early and the condition showed familial inheritance in two of our patients.

The moyamoya syndrome associated with irradiation of an optic glioma in children: report of two cases and review of the literature.

We report two cases of the moyamoya syndrome which became clinically apparent after irradiation of an optic glioma during childhood. A summary of 14 cases of this syndrome following irradiation of intracranial tumors is also presented. Nine of these cases were optic gliomas; five were found in children with neurofibromatosis, another disorder that has a strong association with the moyamoya syndrome. The effectiveness of irradiation of optic gliomas in childhood is not definitely established. The possibility of inducing serious vascular disease is a further reason for caution when considering irradiating these tumors.