Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 16 96

A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 17 65

Eight cases of late infantile neuroaxonal dystrophy are reported. In all cases, the diagnosis was made during life on the basis of the clinical picture and course, the results of neurophysiological studies and the finding of typical spheroids in cortical or peripheral (skin and conjunctival) biopsies. A review of 76 previously published cases revealed that 42 displayed a stereotyped clinical picture identical to that exhibited by our 8 patients. The most important clinical features, as they emerge from the study of these 50 cases, are those of a progressive disorder starting at the end of the first or beginning of the second year of life, progressive motor and mental deterioration bilateral pyramidal tract signs, marked hypotonia and early visual disturbances without epileptic seizures. The presence of high voltage, fast rhythms in the EEG and signs of denervation of an anterior horn-cell type at EMG, with normal nerve conduction velocities, is frequent additional evidence in favour of infantile neuroaxonal dystrophy. The finding of spheroid bodies in axonal endings seems to be constant and is necessary for an in vivo diagnosis. Spheroids can be found in peripheral tissues, for example, skin and conjunctiva, and cortical biopsy is no longer required. The spheroids, however, are not specific and both clinical and pathological features are necessary to establish a firm diagnosis. Since infantile neuroaxonal dystrophy is a recessively inherited disorder its recognition is imperative even though the nosology of the disease remains uncertain.
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PMID:Infantile neuroaxonal dystrophy. 50 95

The detection of neurodegenerative and neurometabolic diseases in children relies on a high index of suspicion as most will present as common paediatric problems such as recurrent vomiting, feeding problem, failure to thrive, sepsis, or developmental delay. Alternatively, children may present with an acute encephalopathy or with a chronic progressive encephalopathy. Clinical clues suggestive of neurometabolic disorders include encephalopathic features such as microcephaly, macrocephaly, developmental regression, developmental arrest, change in sensorium, seizures, hypotonia, hypertonia, abnormal eye signs; also extrapyramidal or cerebellar signs and systemic features like abnormal respiration, hepatosplenomegaly, abnormal hair, liver dysfunction, renal tubular dysfunction, cardiomyopathy, and feeding difficulties or growth problems. Initial screening include tests for acidosis, ketosis, hyperlacticemia, and hyperammonemia. Further investigations should amino acid chromatography, assays of organic acids, specific enzyme assay of white cell or fibroblast culture, and histopatholgy of cell and tissue biopsy (white blood cell, skin, muscle, conjunctiva, bone marrow, liver, rectum, or brain). The correct diagnosis holds implications for targeted therapeutic intervention, genetic counselling, and possibly, prenatal diagnosis.
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PMID:Neurodegenerative diseases in children. 1184 61

The purpose of this article is to report the surgical treatment of two patients. After the filtering surgery a dehiscence of the conjunctiva emerged and was followed by an extreme hypotony of the eyeball and an extensive uveal effusion. The first patient, 82 years old lady, was treated with the diagnosis of chronic open angle glaucoma for 25 years. The right eye with an absolute glaucoma, the left eye had normal intraocular pressure (IOP) and was after a combined filtering surgical procedure with phacoemulsification and posterior chamber intraocular lens (PC IOL) implantation in 1998. In autumn 2000, the patient suffered conjunctivitis, and the prominent filtering bleb was damaged due to frequent rubbing of the eye because of itching. Severe hypotony of the eyeball with secondary uveal effusion followed. Considering the age of the patient and the only functional eye, an extreme surgery was indicated: PC IOL explantation (removal), pars plana vitrectomy (ppV) with silicone oil implantation. After the surgery the eyeball was anatomically stabilized and the VA (visual acuity) improved from initial uncertain light perception to 0.08 (1/12 or 3/36) and certain light perception. The second patient, 35 years old man suffered in 1995 a serious penetrating injury with an intraocular foreign body of the right globe. During the following five years the patient underwent in altogether six intraocular surgeries due to posttraumatic cataract and rhegmatogenous and tractional detachment of the retina. In the year 2000, trabeculectomy due to secondary glaucoma was indicated and 8 months later, on patients demand an anterior chamber intraocular lens (AC IOL) was implanted. During the first week after the surgery severe hypotonia of the globe and secondary uveal effusion caused by conjunctival dehiscence in the upper nasal quadrant of the eyeball developed. Because of complicated ocular history of the patient who underwent on the whole eight eye surgeries a relative minimal procedure was indicated: AC IOL removal and insufflation of 1 ml of 100% hexafluorosulfide (SF6) expansive gas into the anterior chamber and vitreous cavity. The globe was stabilized and the VA (visual acuity) improved from initial uncertain light perception to 0.25 (6/24 or 20/80) with certain light perception.
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PMID:[Treatment of uveal effusion syndrome after filtering surgery (2 case reports)]. 1518 52

The definition of postoperative hypotony should be based on intraocular pressure (<5 mmHg) but should also take into account the associated anatomical risk, risk factors as well as the mechanisms involved, which vary depending on whether the anterior or posterior segment is concerned (presence or absence of the Seidel sign, primary or secondary ciliary body and choroidal detachment, etc.). The course to follow is based on evaluating the urgency of the situation so as to provide an adapted response. The choice and delay of the therapeutic response depends on the degree of inflammation of the bleb, the degree of athalamia (3 stages), and the aspect of the posterior pole. In case one or the other chosen technique fails (simple surveillance, bandage, protective eye shield, contact lens, laser, etc.), surgical revision of the operative site may be necessary. The anterior chamber must be reinflated using viscoelastic in certain situations. Much rarer is the need for intervention on the posterior pole after UBM, B ultrasound, and gonioscopy. Cases of severe and delayed secondary hypotonia with conjunctiva-scleral necrosis require rapid reoperation.
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PMID:[What should be done when surgery fails? Intraocular pressure remains too low after filtrating surgery]. 1707 28