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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report five cases of nephrotic syndrome due to focal segmental glomerulosclerosis (FSGS) in mentally retarded children with severe infantile spasms. Four of the five children diagnosed as West syndrome, Lennox syndrome, or petit mal epilepsy also had cerebral palsy and microcephaly. The other patient had petit mal epilepsy without cerebral palsy and microcephaly. All patients first developed infantile spasms, with the time of onset ranging from 1 week to 2 years of age, and subsequently developed proteinuria, followed by the nephrotic syndrome at 3 to 14 years of age. Four of the five developed terminal renal failure between 7 and 11 years of age. Three subsequently died, but the other underwent kidney transplantation and is still living without further complications. The light, electron microscopic, and immunohistochemical studies performed on the renal biopsies from all the patients and on the autopsy specimens from two cases exhibited FSGS-like lesions. Besides segmental hyalinosis, differing degrees of mesangiolysis were seen, which sometimes developed into dissecting microaneurysms of the glomerular capillary loops. The clinical picture described can be differentiated from congenital nephrotic syndrome (CNS) or infantile nephrotic syndrome (INS) with respect to the age of onset, outcome, and morphological appearance. We reviewed the previous literature and extended earlier observations about an unusual association between the nephrotic syndrome due to FSGS-like lesion, mental retardation, infantile spasms, and/or microcephaly in children.
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PMID:Focal segmental glomerulosclerosis associated with infantile spasms in five mentally retarded children: a morphological analysis on mesangiolysis. 202 58

Giant axonal neuropathy in two siblings was reported. The fact that two cases are found in the same family supports this disorder is genetically determined and recessively inherited. These two cases, similar to the cases reported in literature, had chronic peripheral neuropathy and CNS symptoms, and also petit mal absence and mental retardation in elder sister (case 1) and precocious puberty in younger sister (case 2). Sural nerve biopsies in both cases disclosed axonal swellings or giant axons filled with aggregated neurofilaments, and that aggregated intermediate-sized filaments were found within cytoplasm of Schwann cells, endothelial cells of intra and extra-neurial capillaries and of extra-neurial arterioles, perineurial cells and endoneurial fibroblasts. Skin biopsies in both cases disclosed that aggregated intermediate-sized filaments were also found within cytoplasm of fibroblasts, Langerhans' cells, melanocytes and endothelial cells of capillaries, lymphatic vessels and arterioles. The diagnosis of giant axonal neuropathy can be made only by the findings in skin biopsy.
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PMID:Giant axonal neuropathy: report of two siblings with endocrinological and histological studies. 680 37

Ninety-six newborn infants with seizures were scored during the initial hospitalization on abnormality of EEG, neurologic examination, etiology of seizures, length of seizure, type of seizure, and birth weight under or over 1,500 gm. At 3 months, corrected for gestational age, the 80 surviving infants were scored on abnormality of current EEG, neurologic examination, etiology of seizure, presence or absence of seizure since hospital discharge, and birth weight under or over 1,500 gm. At age 10 months, 76 of 77 surviving infants were evaluated with the Gesell Developmental Inventory, physical examination, and neurologic examination. Chi square analysis documented that the scoring system was an accurate predictor of those infants with seizure disorders, mental retardation, and motor dysfunction. The score may assist the clinician in making decisions in regard to anticonvulsant therapy during initial hospitalization or at age 3 months.
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PMID:A scoring system to predict outcome following neonatal seizures. 726 8

The electroencephalogram represents an electrical summary of the organizational patterns and the total physical-chemical processes taking place in the brain at the time of the recording. Itis affected by (1) artifacts secondary to head movements, muscle potentials, and eye movements, (2) physiological factors, such as state of consciousness, hyperventilation, and maturity of the brain, (3) metabolic factors such as temperature, thyroid function, electrolyte changes, and numerous other metabolic factors, and (4) drugs. Brain dysfunction also causes changes in the electroencephalogram. The electroencephalogram is useful in some, but not all, types of brain dysfunction. In general, the electroencephalogram is most likely to be abnormal if the underlying disease is acute or ongoing, or if the disease is associated with seizures. Focal lesions may appear when none is suspected clinically. The electroencephalogram can be an invaluable aid in dealing with epilepsy. Petit mal epilepsy cannot be diagnosed without it, and infantile spasms are diagnosed with considerably greater certainty if the electroencephalogram shows hypsarrhythmia. Patients with seizures which appear to be generalized may have an electroencephalogram with focal abnormalities; this may be the only clue that a focal lesion exists. Psychomotor epilepsy is sometimes difficult to differentiate from sociopathic behavior, and the electroencephalogram can be helpful. The electroencephalogram is less useful in chronic static conditions such as mental retardation, minimal cerebral dysfunction, or behavior disorders, unless there is associated epilepsy or ongoing brain pathology. More recently, the electroencephalogram has been used to estimate gestational age with reasonable accuracy. With the aid of a computer, responses to auditory and visual stimuli have been recorded on the electroencephalogram. These techniques, although not in general use at the present time, hold considerable promise for the future. They mark the beginnings of a new dimension in using the electroencephalogram as a tool in helping the clinician evaluate and understand brain development, and in helping him recognize early signs of disease in the developing brain.
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PMID:The electroencephalogram in clinical pediatrics. 2586 84