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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the clinical and cephalometric characteristics of a case of Prader-Labhart-Willi syndrome (obesity, hypogonadism, oligophrenia, hypotonia, small hands and feet). Taurodontism and enamel-dentine dysplasia are reported as the main dental features. The craniofacial region shows an increased bony interorbital distance and a low level of the cribriform plate of the ethmoid bone. The possibility that these anomalies could be related to the etiopathogenesis of the syndrome is discussed.
Minerva Stomatol 1991 Dec
PMID:[The dentomaxillofacial characteristics of the Prader-Labhart-Willi syndrome. A clinical case report]. 181 31

Symptoms and signs were recorded for 1007 infants younger than 6 months of age seen at home (298) or hospital (709) and correlated with four grades of illness severity. Most symptoms, present in the preceding 3 days, were associated with all grades of illness. Only four symptoms were not reported in well infants: a fluid intake less than a third of normal, convulsions, frank blood in the stools, and bile-stained vomiting. By comparison, many signs were seen only in ill infants. Those associated only with moderate or serous illness were marked retraction of the lower ribs, high-pitched or moaning cry, expiratory grunt, loss of alertness, central cyanosis, and severe hypotonia. Although these will not identify all seriously ill infants, parents and professionals should be taught to recognize these important symptoms and signs of serious illness.
Pediatrics 1991 Dec
PMID:Symptoms and signs in infants younger than 6 months of age correlated with the severity of their illness. 195 28

A young boy, aged 5 years 7 months, presented with generalized hypotonia and proximal muscle weakness, and had exhibited delayed motor milestones since birth, He showed talipes planovalgus, a myopathic face, nasal tone vocalization, positive Gowers' sign and decreased tendon reflexes, but there was no intellectual impairment or seizure. The serum creatine kinase level and peripheral nerve conduction velocity, as well as the electromyogram and electrocardiogram, were within normal limits. A biopsy specimen from the left biceps brachii muscle revealed minimal nonspecific changes and mild variations in fiber size with an increased number of undifferentiated type 2C fibers, but no subcellular abnormalities were found on either the histochemical or electron microscopic examinations. The patient was diagnosed as having minimal change myopathy and improved clinically in muscle strength after one year of follow-up.
J Formos Med Assoc 1990 Dec
PMID:Minimal change myopathy: report of a case. 198 82

A 23-year-old male with clinically diagnosed Lowe syndrome had bilateral cataracts, glaucoma, pendulous nystagmus, severe mental and growth retardation, hypotonia, areflexia, joints hyperextensibility, proteinuria, aminoaciduria, and metabolic acidosis. There was also severe epileptic activity (Lennox-Gastaut syndrome). The neuropathological examination revealed a marked cerebellar atrophy and central chromatolysis in the cerebral cortex. These observations do not confirm the hypothesis of dysmyelination as formulated in previous studies. The reported case rather suggests the existence of a dynamic process starting as a still-undefined metabolic abnormality that, in turn, causes various and inconsistent lesions at the microscopic level.
J Ment Defic Res 1990 Dec
PMID:Lowe syndrome: clinical and neuropathological studies of an adult case. 207 36

A 6 week-old boy whose mother and sister present with hereditary hemorrhagic telangiectasia (HHT) presented suddenly with listlessness, hypotonia, and acute anemia. Cerebrospinal fluid was grossly hemorrhagic. Brain CT scan was compatible with subarachnoid and intracerebral hemorrhage. Operative investigation diagnosed a ruptured aneurysm of one branch of the right middle cerebral artery. A large clot was removed from the right frontal lobe. The ruptured artery was clipped. Further cerebral and abdominal angiographies did not show other aneurysms. The infant died 18 days later, with bilateral subdural hematoma. The family history and review of the literature suggest that the rupture of a cerebral aneurysm in this infant may have been an early manifestation of HHT. Brain CT scan study seems mandatory in every infant born to a mother with HHT.
Arch Fr Pediatr 1990 Dec
PMID:[Rendu Osler disease revealed by ruptured cerebral arterial aneurysm in an infant]. 208 50

Examination of 15 patients with clofelin poisoning cleared up clinical symptoms of the condition. The impairment was chiefly inflicted to cardiovascular system and neuropsychic status. There appeared arterial hypotonia, long-term orthostatic hypotonia combined with bradycardia and extrasystolic arrhythmia. Early hours of poisoning can be accompanied with high pressure (hypertensive phase). ECG records sinus bradycardia and early ventricular repolarization. Neuropsychic alterations involve drowsiness, stupor++, psychic inhibition, visual and auditory hallucinations, photopsia. The condition was managed symptomatically. All the patients recovered.
Klin Med (Mosk) 1990 Dec
PMID:[Clinical aspects and diagnosis of klofelin poisoning]. 208 35

Five published case reports of clonidine patch toxicity in pediatric patients bring to light the importance of educating the public regarding appropriate use and disposal of transdermal drug-delivery systems. With the increasing use of clonidine transdermal delivery systems it is important that clonidine patch toxicity be considered in pediatric patients presenting with symptoms of depressed consciousness, miosis, hypoventilation, hypotension, bradycardia, hypothermia, cardiac dysrhythmias, hypotonia, or convulsions. Appropriate early supportive management is essential to avoid serious morbidity or mortality in the pediatric patient, and is reviewed herein.
DICP 1990 Dec
PMID:Clonidine patch toxicity. 187 84

Pulmonary hypertension without any cardiovascular malformation was diagnosed by heart catheterization in a 4 year old girl with trisomy 21. A suspected obstructive sleep apnea syndrome was confirmed by polysomnography which revealed numerous obstructive apneas and hypopneas (apnea-index 23/h) with marked oxygen desaturation and a disturbed sleep pattern. Three months after adenotonsillectomy the mother reported her daughter having a quiet sleep without snoring. Polysomnography did not show any apnea nor any oxygen desaturation below 90%. A decrease of the pulmonary artery pressure was documented. Facial dysmorphias and muscle hypotonia predispose patients with trisomy 21 to obstructive sleep apnea, especially if hypertrophy of tonsills and adenoids coexist. Frequent arousals and hypoxia during sleep can result in failure to thrive and pulmonary hypertension. These consequences can be prevented by early diagnosis and treatment.
Monatsschr Kinderheilkd 1990 Dec
PMID:[Obstructive sleep apnea syndrome in a child with trisomy 21]. 215 Aug 74

A 5-year-old boy with panperoxisomal dysfunction is described. Clinical features included hypotonia, areflexia, and ataxia. Cognition, vision, hearing, and hepatic function were normal. A panel of peroxisomal markers, including very-long-chain fatty acids, phytanic acid, pipecolic acid, and catalase compartmentalization, were abnormal. This is a uniquely benign syndrome of disordered peroxisome biogenesis.
Ann Neurol 1990 Dec
PMID:Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis. 217 32

We studied 14 Arab infants with infantile spongy degeneration, 13 of whom were products of consanguineous marriages. They presented in infancy with macrocephaly, poor visual behavior or blindness, and axial hypotonia with appendicular spasticity. Brain CT and MRI showed diffuse symmetric leukoencephalopathy, even before neurologic symptoms. There were relatively normal EEGs. The visual evoked responses (P100) were either absent or delayed early in the course. The brainstem auditory evoked responses showed milder abnormalities, with loss of later components before the earlier ones. Deficient aspartoacylase activity in cultured fibroblasts or brain biopsy confirmed the diagnosis in all patients.
Neurology 1990 Dec
PMID:Infantile CNS spongy degeneration--14 cases: clinical update. 224 37


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