Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During a six-year period, an adolescent girl developed a polyglandular disease characterized by hypoparathyroidism, chemical diabetes, growth failure and pubertal delay, hypercholesterolemia, and hypomagnesemia. A slowly progressive neurological disorder occurred simultaneously, consisting of progressive external ophthalmoplegia, mitochondrial myopathy, ataxia, neural deafness, mental subnormality, atypical retinitis, corneal dystrophy, cataract, and increased protein level in the cerebrospinal fluid. An intracardiac conduction defect was also found. This disorder, the cause of which is uncertain, is termed oculocraniosomatic disease. Our patient is apparently unique in that there was an associated hypoparathyroidism.
 ...
PMID:Oculocraniosomatic neuromuscular disease with hypoparathyroidism. 84 67

A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadriceps biopsy specimens showed atrophy of type II fibers and "ragged-red fibers." On electron microscopy these muscle cells were seen to contain an increased amount of glycogen particles and abnormal mitochondria were increased in number and size. It is of interest that abrupt deterioration of neurological findings such as seizures, mental subnormality, speech disturbance and deafness was present in our case. Computed tomographic scanning showed progressive changes of cerebral atrophy, low density of cerebral white matter and basal ganglia calcification, which were well associated with the clinical deterioration. A review of the literature also indicated that some patients with this syndrome showed abrupt neurological deterioration in childhood. Involvement of the central nervous system in this syndrome has to be considered as the cause of sudden deterioration and death in childhood.
 ...
PMID:Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome. 648 80

Thirty five floppy children seen during two year period, were subjected to clinical examination, electroneuromyography and muscle biopsy. The muscle biopsy was sent for routine histology, histochemistry and electron microscopy. Using muscle pathology as the 'gold standard' for diagnosis, the aetiological entities were spinal muscular atrophy (16), congenital muscular dystrophy (6), mitochondrial myopathy (3), congenital fibre type disproportion (2), acid mutase deficiency (1) and benign congenital hypotonia (6). Mental subnormality, seizures, ptosis and ophthalmoplegia suggested mitochondrial disease (n=2). Macroglossia, hepatomegaly and cardiomegaly along with the dive bomber effect on electromyography were useful clues to the diagnosis of Pompe's disease (n=1). Positive decremental test established the diagnosis of congenital myasthenia in one patient. Contrary to most previously published reports, infantile onset of spinal muscular atrophy did not always spell a poor prognosis on follow up. 'Floppy infant syndrome' has varied etiology. Comprehensive evaluation including clinical, electrophysiological and detailed histological examination is necessary for proper diagnosis and prognosis of this heterogenous entity.
 ...
PMID:Neuromuscular disorders in infancy and childhood. 2951 74