Adrenocortical carcinoma with cerebral metastasis in a child: case report and review of the literature.

OBJECTIVE AND IMPORTANCE: Adrenocortical carcinoma (ACC) is rare in the pediatric population, and brain metastasis seldom occurs. CLINICAL PRESENTATION: The authors report a case of metastatic ACC to the brain in a 9-year-old patient who had an adrenal cortex neoplasm removed at 4 years of age, and was free of symptoms for 5 years. Two weeks before admission she complained of blurred vision in both eyes. INTERVENTION: Examination revealed bilateral papilledema, and a Magnetic Resonance Imaging (MRI) of the brain revealed a mass in the left lateral ventricle with extensive vasogenic edema and hydrocephalus. The tumor was removed, and histopathologic examination demonstrated metastatic ACC. CONCLUSION: Although ACC is a rare neoplasm it must be considered in the differential diagnosis of cerebral lesions in patients with a history of this tumor. Periodic long-term brain imaging is suggested as part of the follow up in patients with adrenocortical neoplasms.

FK506-induced leukoencephalopathy in children with organ transplants.

FK506-induced leukoencephalopathy is a well-known entity in adult organ transplant patients. The neurotoxicity of FK506 immunosuppression is frequently reversible, with either reduction or cessation of the drug. This neurologic syndrome is not well documented in children. We report the clinical and radiologic features in four pediatric cases of FK506 leukoencephalopathy. In two of the four patients this syndrome was reversible.

Diagnostic problems in three pediatric neurology practice plans.

Outpatient information was collected during 8 consecutive months from three different practice plans and analyzed for trends in diagnostic problems. At the time of patient contact, 1,635 patient visits were documented. The data were obtained from government clinics, a capitated contract setting, and a fee-for-service private clinic. Headache, epilepsy, and developmental delay were the most common diagnoses in all three settings. Cerebral palsy had a relatively low incidence. The types of complaints are clearly different depending on the practice setting. The factors responsible for these patterns are discussed.

MRI diagnosis of NF-1 in children without café-au-lait skin lesions.

Three of ten children with optic gliomas satisfy the 1987 National Institutes of Health consensus criteria for neurofibromatosis type 1 (NF-1). The diagnosis in these cases is based on the presence of café-au-lait skin lesions in addition to the optic glioma. Two children without skin lesions have typical findings on magnetic resonance imaging (MRI) that also suggest a diagnosis of NF-1. A review of 281 NF-1 children with brain MRI results demonstrates the presence of these abnormalities in 57% of the cases. It is suggested that this MRI abnormality is sufficiently specific to add this feature to the list of diagnostic criteria. When MRI findings are present in a child with optic glioma and without skin lesions, counseling should be given for NF-1. It is noteworthy that these typical MRI findings in NF-1 are less common in adulthood, apparently because of spontaneous resolution.

Walker-Warburg syndrome: neurologic features and muscle membrane structure.

Walker-Warburg syndrome is an autosomal-recessive genetic disorder characterized by congenital muscular dystrophy in association with complex developmental abnormalities of the central nervous system and the eyes. Two patients with Walker-Warburg syndrome are presented to demonstrate clinical variability. Previously unreported pathologic findings involving heart, muscle, spinal cord, and gall bladder are described, and the literature is reviewed. Histopathologic studies of the muscle membrane protein network in both Walker-Warburg syndrome patients reveal a decreased immunostaining for laminin alpha2 and beta-dystroglycan. The clinical, histologic, and biochemical variability in Walker-Warburg patients may reflect heterogeneity.

Lyme neuroborreliosis masquerading as a brainstem tumor in a 15-year-old.

A 15-year-old boy had onset of unilateral facial weakness. A few days later, he experienced mild vertigo, double vision, and headache. Examination confirmed a peripheral right seventh nerve weakness in addition to an internuclear ophthalmoplegia. The neurologic features suggested a pontine glioma. A T2-weighted MRI scan revealed demyelinating lesions in the pons and in several areas of the cerebrum, including the periventricular region. Subsequent history revealed that he had been diagnosed with Lyme arthritis 7 years earlier while living in Connecticut. The radiographic studies favored a diagnosis of multiple sclerosis. However, studies of blood and cerebrospinal fluid established a diagnosis of Lyme neuroborreliosis.

Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?

A patient is presented with hyperkalemic periodic paralysis (HyperPP) and a cardiac dysrhythmia. An amino acid substitution (Val783Ile) in the adult skeletal muscle sodium channel gene was detected. Although lack of available family members precluded rigorous genetic tests, the sodium channel change may be responsible for HyperPP in this patient and could also be responsible for the associated cardiac dysrhythmia.

Choreoathetosis after surgery for congenital heart disease.

Choreoathetosis developed in three patients after cardiopulmonary bypass with hypothermia. None had significant hypotension or hypoxemia; all had hypocapnia and respiratory alkalosis during the rewarming period. We postulate that hypocapnia-induced cerebral vasoconstriction may have contributed to ischemic damage in focal central nervous system areas.

Corpus callosotomy for seizures associated with band heterotopia.

Band heterotopia is a severe form of neuronal migration disorder associated with intractable epilepsy and neurologic impairment. Surgical treatment of seizures associated with this malformation has not been reported previously. We report a patient with band heterotopia and poorly controlled atonic seizures causing falls and injury. The patient was treated with anterior corpus callosotomy, with significant postoperative decrease in seizure frequency. Corpus callosotomy is a reasonable alternative to consider in management of patients with cortical heterotopia and intractable seizures.

Chronic progressive CNS histoplasmosis presenting in childhood: response to fluconazole therapy.

An 18-year-old Hispanic female developed symptoms of a Histoplasma capsulatum infection at 9 1/2 years of age. Initial problems of ataxia and hydrocephalus were followed by seizures and a cranial nerve palsy which developed over several years. T1-weighted cranial magnetic resonance imaging studies revealed numerous high-signal lesions; subsequently, signs of multisystem dissemination developed. Treatment included ventriculoperitoneal shunting, corticosteroids, amphotericin B, and a new antifungal agent, fluconazole, which was responsible for marked improvement.

Magnetic resonance demonstration of intracranial CSF flow in children.

We determined the feasibility and value of studying intracranial CSF flow in children with potential CSF pathway problems using a cardiac gated cine magnetic resonance (MR) format. We studied 15 consecutive patients with a variety of clinical problems that suggested possible CSF pathway problems. The diagnoses included Chiari malformation, Dandy-Walker syndrome, external hydrocephalus, cerebellar tumor, CNS histoplasmosis, and tuberculous meningitis. In addition to documenting the feasibility of the technique in children (7 of 15 were less than 2 years of age), we derived significant new information relative to pathogenesis and/or therapy. The study provides preliminary evidence supporting intracranial CSF flow studies at the time of routine MR imaging of appropriate children.

Idiopathic ischemic infarction of the brain stem in children.

Three cases of idiopathic brain-stem infarction are added to the literature on 12 children. There is no age predilection, and the youngest case is 3 years old. However, there is a striking male preponderance of 13:2. The residual neurological deficit covers the range of normal to quadriparesis. Laboratory studies investigating hypercoagulopathy, platelet dysfunction and atrial septal defect may provide an etiology for some cases in the future.

Central nervous system tuberculosis in children.

The incidence of tuberculosis in the United States is increasing in all age groups; 5% of all of these patients have central nervous system involvement. We studied childhood central nervous system tuberculosis between 1979 and 1989 and reviewed the literature for patients up to 14 years of age. The small number of patients reported in this country results in delayed diagnoses because of reduced awareness. Cranial computed tomography within 1 week of initial symptoms may reveal basilar enhancement, hydrocephalus, or infarction. When combined with cerebrospinal fluid findings atypical for common bacterial infection, these radiographic findings support the prompt initiation of antituberculous therapy. Prophylactic considerations are also discussed.

Leber congenital amaurosis in siblings with diffuse dysmyelination.

Two brothers are described with the previously unrecognized combination of Leber amaurosis and abnormal myelin detected by magnetic resonance imaging. Both have evidence of delayed psychomotor development and one has autistic features. A possible relationship with infantile autism or a peroxisomal dysfunction syndrome is explored. No peroxisomal defect was found in these patients.

Ambulatory EEG recordings in children with infrequent seizures.

Twenty-one children, ages 1-15 years, were selected for outpatient ambulatory electroencephalographic (AEEG) monitoring on the basis of infrequent seizures without therapy, normal routine EEGs, and normal neurologic/developmental examinations. Technically satisfactory recordings were obtained in all patients; recording time consisted of 24, 22, and 6 hours for 15, 4, and 2 patients, respectively. Eighteen patients were not receiving antiepileptic drug therapy at AEEG. The follow-up intervals after the AEEG ranged from 4-20 months. Only 2 patients had epileptiform AEEGs. Of the remaining 19 with nonepileptiform records, 10 were seizure free without antiepileptic drug therapy, but 9 developed additional seizures which required treatment.

A new sign of neurofibromatosis on magnetic resonance imaging of children.

Ten pediatric patients with clinically proved neurofibromatosis underwent magnetic resonance imaging of the brain. Seven of these patients had lesions of increased signal intensity on T2-weighted images in the globus pallidus, brain stem, or cerebellar white matter. The lesions did not correlate with results of the neurologic examination or with developmental status. These abnormalities most likely represent hamartomas and should be recognized as part of the diagnostic spectrum of neurofibromatosis.

Congenital AIDS: review of neurologic problems.

Congenital AIDS results from active maternal infection even though the infant's mother may be asymptomatic when the first sign of infection presents in her child. In most instances the initial symptoms are not referable to the nervous system, however this may be misleading due to the age of the patient. By eighteen months of age over 90% have evidence of static or progressive encephalopathy. This is almost always due to HIV infection of the central nervous system (CNS) since secondary CNS infections are uncommon in children with AIDS.

Progressive cytomegalovirus encephalopathy following congenital infection in an infant with acquired immunodeficiency syndrome.

Congenital central nervous system infection with cytomegalovirus (CMV) usually results in a nonprogressive encephalopathy. Ninety percent of patients with clinically apparent infections at birth have a permanent neurological disability. It has been suggested that some infants may have persistent infection manifested by progressive encephalopathy during infancy. In the present case, clinical and pathological findings suggest the reactivation of a prior intrauterine CMV infection in a child with human T-lymphotrophic virus type III (HTLV-III) infection. The presence of HTLV-III may have reduced the immune surveillance of this infant, allowing the CMV to reactivate.