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)

Three children in a West African family had Gaucher's disease of juvenile onset (Type 3), and all showed an identical neurological disorder. The diagnosis was substantiated by histochemical demonstration of Gaucher cells in bone marrow, liver, and spleen, the finding of an excess of glucosyl ceramides in a liver extract, and a deficient activity of the enzyme beta-glucosidase in cultured skin fibroblasts. The neurological picture was characterised by myoclonic epilepsy, muscle wasting, hypotonia, pyramidal signs, some intellectual deterioration, and a striking disturbance of eye movements. The latter appears to result from specific involvement of the supranuclear pathways subserving lateral gaze. The distinctive features of this clinical syndrome are emphasised.
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PMID:Juvenile Gaucher's disease with horizontal gaze palsy in three siblings. 40 64

Infantile spasms usually start during the first year of life and constitute one of the most difficult types of epilepsy to treat. They carry a very poor prognosis for both epilepsy and mental development. Seventy children, including 47 infants, with intractable infantile spasms were entered into an open study with vigabatrin as add-on therapy to the usual anticonvulsant treatment. All were resistant to previous treatments, including corticosteroids (43 patients), carbamazepine, benzodiazepines, and sodium valproate. Two children withdrew from the study because of intolerance to vigabatrin (hypotonia or hypertonia) before evaluation of efficacy could be made. Of the remaining 68 children, 29 (43%) showed complete suppression of spasms. Forty-six children had a greater than 50% reduction in spasms. The best response was observed in those with tuberous sclerosis (12/14 compared with 12/18 with symptomatic infantile spasms of other origin and 22/36 with cryptogenic infantile spasms). Following the initial response to treatment of these patients (n = 68), a long-term response was confirmed in 75% of children with symptomatic infantile spasms and 36% of children with cryptogenic infantile spasms. In eight children, all other anticonvulsant medication could be definitively withdrawn. Tolerability appeared excellent, with 52 of 70 patients reporting no side effects. Somnolence, hypotonia, weight gain, excitation, and insomnia were the most common problems at the beginning of the study and were usually transient. Given the poor prognosis of this type of childhood epilepsy, vigabatrin appears to be a very interesting advance in the management of drug-resistant infantile spasms.
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PMID:Therapeutic trial of vigabatrin in refractory infantile spasms. 194 Jan 25

The aircraft disaster of the first flight of Operation "Baby Lift", which departed from Saigon, Vietnam, April 4, 1975, was survived by 149 orphaned children on their way to adoptive homes in the West. It had 157 passenger fatalities. The aircraft disaster exposed the surviving children to a complex disaster environment in which subatmospheric decompression, hypoxia, and deceleration were experienced, many children suffered a transient unconsciousness. We examined 135 surviving children between 1978 and 1985. The U.S. resident children were examined in the years 1979 to 1982 at an average age of 8 years and 6 months. They displayed the following symptomatology: attention deficit (> 75%), hyperactivity (> 65%), impulse disorder (> 55%), learning disabilities (> 35%), speech and language pathology (> 70%), and soft neurological signs (> 75%). The European children were examined in the years 1983 to 1985. On arrival at the adoptive home, 2 weeks after the accident they displayed the following symptomatology: muscle hypotonia (26%), seizures (2.5%), and regressed developmental milestones (33%). At the time of the diagnostic evaluations (1983 to 1985) the average age was 11 years and 8 months. They displayed the following symptomatology: attention deficit (59%), hyperactivity (52%), impulse disorder (48%), learning disabilities (43%), soft neurological signs (43%), epilepsy (16%), and speech and language pathology (34%). We conclude that a complex disaster environment can cause brain damage in children without prolonged unconsciousness, and that victims of disasters require a thorough evaluation from a multidisciplinary team.
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PMID:Neurological sequelae of the operation "baby lift" airplane disaster. 792 94

We reported serial clinical, radiological, and neurophysiological findings of a patient with PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome. The case was a 4-year-and-8-month-old boy. He had no apparent problems during pregnancy, but after his birth severe hypotonia and developmental delay were evident. Infantile spasms appeared at 3 months of age, and progressive opisthotonic posture and loss of his visual acuity at 8 months. Eye fixation was lost, and optic atrophy was observed. Seizures and progressive atrophy of the cerebellum and brainstem developed during the same period. These findings of our case support the hypothesis that brainstem lesions are related to infantile spasms.
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PMID:[A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings]. 939 5

We describe a five year old boy with inversion duplication of chromosome 15 (inv dup (15)) who, at the age of six months had started to develop West's syndrome. He later developed cryptogenic myoclonic epilepsy which was resistant to medication. On examination there was dysmorphia, overall hypotonia and diffuse pyramidalism. On starting ACTH the crises of flexion spasms were reduced but these were soon followed by myoclonic crises, both tonic and atonic, which did not respond to the various anticonvulsive treatments given. We comment on the changes in chromosome 15 linked to convulsions, and particularly the phenotypes of the inv dup (15) which depend on the size and genetic composition of the anomaly. This is the third case described in the literature of a patient with West's syndrome associated with supernumerary inversion duplication of chromosome 15. It is suggested that the karyotype be included when studying convulsive encephalopathies and cryptogenic refractory epilepsy, especially in infantile spasms.
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PMID:[West's syndrome associated with inversion duplication of chromosome 15]. 953 12

We report a 22-year-old man with hydrocephalus caused by aqueductal stenosis. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar facies, postnatal growth deficiency, brachydactyly of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinal manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndrome, microcephaly, brain atrophy, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults.
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PMID:Kabuki make-up syndrome and report of a case with hydrocephalus. 969 34

Multiresistant Plasmodium falciparum malaria is a major threat to travelers to subSaharan Africa. However, even if chemoprophylaxis does not prevent clinical malaria in some individuals, it does lead to a reduction in the severity of the disease.1 In Sweden, we have recently seen five patients with malaria (three due to P. ovale and two due to P. falciparum) who have used homeopathic drugs for prophylaxis during visits to West Africa. We are concerned about this incidence and afraid that reduced confidence in modern medical malaria prophylaxis will encourage some individuals to try totally ineffective alternatives. Three women (57, 40, and 39 years old) visited Guinea Conacry in January 1995 as members of a group of 24 persons learning about African dances. The 57-year-old woman took mefloquine irregularly but vomited each time after intake. She also used Spenglersan M, which is a homeopathic drug that is administered (one drop daily in the bend of the arm) as malaria prophylaxis. The two other women used Spenglersan M only. They all fell ill with P. ovale malaria despite ongoing intake. Spenglersan M is said to contain both antigen from P. falciparum and antibodies against the parasite diluted to 1:1,000,000,000 concentration. The fourth case was a 26-year-old man who visited Ghana and Burkina Faso in October and November 1994. He used China D-6 for prophylaxis. This is a homeopathic preparation of the bark from the cinchona tree. Not even trace amounts of quinine were found in the tablets with a very sensitive high-performance liquid chromatographic method.2 Four days after returning from Africa he fell ill with P. falciparum malaria and received sulphadoxine-pyrimethamine treatment. After clinical relapse (RI), mefloquine was given and the patient was eventually cured. The fifth case was a 34-year-old woman admitted to hospital because of P. falciparum malaria after a visit to Guinea Conacry in January 1995. She had taken a homeopathic drug, Charaka comp 118, as prophylaxis. The drug is said to contain different extracts from herbs diluted 30 times. At first she refused to stay in hospital, but 2 days later she was readmitted and treated in the intensive care unit because of severe malaria with hypotonia and anemia. She had hyperparasitemia with 23% infected erythrocytes. Exchange transfusion was done, quinine was given, and the patient recovered without sequelae. The mortality is about 1% in people with P. falciparum infection.3 We therefore urge the readers to stand up against the dangerous use of homeopathic drugs and instead motivate travelers to use protective malaria prophylaxis.
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PMID:Homeopathic Resistant Malaria. 981 26

Krabbe disease or globoid cell leukodystrophy (GLD) is an autosomal recessive disorder resulting from the defective lysosomal hydrolysis of specific galactolipids found primarily in myelin. This leads to severe neurological symptoms including seizures, hypotonia, blindness, and death, usually before 2 years of age in human patients. In addition to human patients, several animals, including dog, mouse, and monkey, have the same disease caused by a deficiency of galactocerebrosidase (GALC) activity. In this article we describe studies in cairn and West Highland white terriers (WHWT) affected with GLD. Through a screening test based on the molecular defect found in these breeds, over 50 cairn terrier carriers have been identified and a colony of five carrier dogs has been established. Affected dogs from this colony plus an affected WHWT were available for study. An affected WHWT was evaluated by magnetic resonance imaging at 6 and 11 months of age and pronounced changes in the T-2 weighted fast spin-echo images were found. Biochemical and pathological evaluation of the same dog after euthanasia at 12 months of age showed a large accumulation of psychosine in the brain and white matter filled with globoid cells. Some comparisons were made to younger affected and carrier dogs. Studies have shown successful transduction of cultured skin fibroblasts from an affected dog and normal canine bone marrow using a retroviral vector containing the human GALC cDNA. Successful treatment of this canine model will lead to studies in some humans with GLD.
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PMID:Globoid cell leukodystrophy in cairn and West Highland white terriers. 998 21

We report a Turkish boy with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). He had generalized hypotonia and abnormal eye movements during early infancy. Infantile spasms were seen in the second year of life. Arrest of psychomotor development and blindness were noticed early in childhood. Serial magnetic resonance imaging revealed progressive infratentorial atrophy with association of cortical atrophy and corpus callosum hypoplasia. This is an additional case of PEHO syndrome, to our knowledge the first such case from Turkey.
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PMID:Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child. 1110 28

D-Glyceric aciduria is a disease with a very heterogeneous group of symptoms, with D-glyceric acid excretion as the chief common characteristic. Findings described in previous patients include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. However, there are also asymptomatic patients with mild neurological impairment. A six-month-old boy was admitted to our clinic with the complaints of dullness to his environment, seizures and autistic behaviour. EEG revealed multifocal generalized epileptic activity in a hypsarrhythmia pattern. Organic acid analysis (GC-MS) in urine revealed increased glyceric acid excretion. Analysis of the optical form of glyceric acid by a polarimetric method supported the diagnosis of D-glyceric aciduria. MRI showed white matter lesions with cerebral atrophy, particularly in the frontotemporal regions, and reversible abnormalities in the mesencephalon, thalami and globus pallidium resolving after fructose restriction in the diet. To our knowledge, this is the first case report of a patient with D-glyceric aciduria who presented with West syndrome and autistic behaviour in whom serial MRI findings are also defined.
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PMID:D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour. 1193 Feb 78


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