Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder with autosomal recessive inheritance, in which cerebroside sulphate (sulphatide) accumulates in the central and peripheral nervous systems due to a deficiency of arylsulphatase A. This article presents a 2-year-old boy who had occasional shortness of breath, horizontal nystagmus and unstable gait for 3 months prior to the entry. He was admitted to our hospital due to shortness of breath, frequent apnea, generalized hypotonia and conscious disturbance. The lumbar puncture, brain CT scan, serum amino acid analysis, urine organic acid assay and nerve conduction velocity of lower extremities all showed negative findings. The electron microscopic finding of muscle elicited lipid deposition. The auditory brainstem response showed bilateral impairment. The routine EEG revealed diffuse slow waves. The brain MRI showed widespread low signals over the white matter of bilateral frontal and parietotemporal areas of the cerebral hemispheres, as well as the white matter of the bilateral cerebellar hemispheres, and the brain stem in the T1-weighted image corresponding the high signals in T2-weighted image. The blood leukocyte lysosomal enzyme activity test revealed arylsulphatase A deficiency. Rapid progressive neurological deterioration was noted since admission. Unfortunately, the patient expired due to respiratory failure in the final.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Late infantile form metachromatic leukodystrophy: report of one case. 129 37

A female infant presented with poor feeding, hypotonia, prolonged jaundice, seizure and wandering nystagmus. A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three months. It is stressed that a diagnosis of septo-optic dysplasia must be entertained in infants who present with prolonged jaundice and hypoglycemia, particularly when rotatory nystagmus is associated.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Septo-optic dysplasia: report of a case. 263 88

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Clinical manifestation of mitochondrial diseases in children. 821 54

The Lowe syndrome, or oculocerebrorenal syndrome, is a rare X-linked recessive hereditary disease which typically involves three major systems including ocular defects (congenital cataracts, glaucoma, searching nystagmus), central nervous system defects (generalized hypotonia with decreased or absent deep tendon reflex and severe mental retardation), and renal dysfunction (progressive renal tubular dysfunction with acidosis and hyperaminoaciduria). Less than 200 cases have been reported in the English literatures since 1952. This article presents the first case of Lowe syndrome in Taiwan. Patient was a newborn who was born with congenital cataracts, glaucoma, generalized hypotonia with areflexia. In following laboratory studies showed early manifestations of renal tubular dysfunction with metabolic acidosis, proteinuria, glycosuria, phosphaturia and generalized hyperaminoaciduria (19 types). CT of brain showed an arachnoid cyst about 4.5 x 5 cm in size below the cerebellar tentorium. Large amount of copper, about 20-30 times above normal range, was detected in the urine. To our knowledge, Lowe syndrome associated with hypercupriuria and arachnoid cyst has not been reported in the past. Whether hypercupriuria is a part of the entity of this disease or prodromal stage of Wilson's disease is obscure. Further investigation and long-term observation are necessary to draw any conclusion.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[Lowe syndrome: report of one case]. 833 87