Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 15-year-old boy with 18 q-syndrome manifesting a status epilepticus is reported. He has been already diagnosed as epilepsy because of grand mal seizures at six months earlier, and abnormal EEG findings. Unilateral status epilepticus developed at 15 years of age, which were characterized by alternative repetition of horizontal nystagmus to the right and clonic convulsion of the right (mainly upper) extremities every several minutes. Ictal EEG showed continuous 2 Hz high voltage slow waves superimposed by spikes and polyspikes which transformed to localized, irregular spike discharges in the left occipital region at the end of the status. The chromosomal study revealed a partial deletion of the long arm of No. 18. He had severe mental retardation, and a typical karyotype for 18 q-syndrome with reduced prominence of the midface region, short stature and whorls on all finger tips. The immaturity of the brain probably relates to this kind of unilateral status epilepticus.
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PMID:[A case of 18 q-syndrome associated with status epilepticus]. 280

Four congenitally blind children aged 4-12 years, with severe or moderate mental retardation, were chronobiologically studied. Three of them showed a free-running rhythm of sleep-wake, and the fourth showed an irregular sleep-wake rhythm. To entrain their sleep-wake rhythm to a 24-h rhythm, several trials based on chronotherapy were performed. The free-running rhythms in the three children were considered their own endogenous rhythms, revealed through some disorder in the mechanism synchronizing the endogenous rhythm to the normal 24-h environmental rhythm. The irregular sleep-wake rhythm in the fourth child may have been the result of immaturity or failure of the pacemaker of the circadian rhythm. Because of their severe mental retardation, all the children were lacking in social time cues, which are the most potent "Zeitgebers" for human biological clocks.
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PMID:Four congenitally blind children with circadian sleep-wake rhythm disorder. 358 22

Phenylketonuria can now be detected during the first few days of life by two reliable mass screening techniques; and its major consequence, severe mental retardation, can be prevented by the early institution of a low phenylalanine diet. Case finding, based on determination of phenylalanine serum levels in newborns before discharge from the hospital, appears to yield an acceptable number of new cases without excessive numbers of false positive or false negative tests at the 4 mg per 100 ml reporting level. Feeding history does not appear to be a major factor in influencing test results. In addition to finding cases of phenylketonuria, newborn blood screening has called attention to another group of infants with hyperphenylalaninemia of other causes. The differential diagnosis in such cases is important because the restrictive diet necessary for patients with phenylketonuria might be harmful to others. Such factors as enzymatic immaturity, heterozygote carriers, maternal enzymatic capacities and other amino-acidemic states must be ruled out by thorough examination. Careful observation, investigation and reporting of experience with these patients will help to eliminate some of the present deficiencies in the knowledge of normal and abnormal amino acid metabolism.
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PMID:Phenylketonuria. Early detection, diagnosis and treatment. 594 92

We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneous abortions. She was born as the second baby of dizygotic twins. The first baby died of diaphragm hernia and heart failure. Her body height, body weight and head circumference were below -3 SD. She did not have epicanthus inversus, hypoplastic teeth, heart anomalies, seizures, muscle weakness, and hearing loss. She was able to handle her wheelchair, but could neither understand nor speak meaningful words. When she looked at something in front of herself, she turned her face up and lifted the left eyelid with her own fingers. She had no somatic change of puberty. Laboratory and radiological examinations demonstrated a normal karyotype, normal bone age, findings of Chilaiditi syndrome, and absence of brain malformation on cranial CT. The serum levels of LH and FSH were high for age and those of estradiol and progesterone were low, suggesting immaturity of ovarian function. These findings suggested the ovarian functions might not get maturations. Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) type I, but not in those with the Ohdo blepharophimosis syndrome (OBS). Our case's condition differs from BPES because of the presence of mental retardation and the absence of epicanthus inversus. We also discuss the distinction from OBS, a disease entity of unknown etiology presenting with a variety of complications.
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PMID:[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome]. 1517 98