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 1-year-old male infant was found to have a de novo unbalanced translocation, resulting in trisomy for a portion of the short arm of chromosome 3, i.e. 46,XY,der(7)t(3;7) (p24.1;p22). Previous cases with a so-called "trisomy 3p syndrome" were evaluated by GTG banding, while we attempted to characterize the present case by the FISH-technique. The major clinical features included: dysmorphic ears, decreased muscle tone and seizure episodes associated with fever, which are concordant with "trisomy 3p syndrome". The most common malformations of trisomy 3p syndrome are: psychomotor and mental retardation, short neck, hypertelorism/telecanthus and congenital heart defects. Predominantly, the 3p trisomies have been maternally derived and the major mechanism of inheritance is due to a malsegregation of the chromosomes that are involved in a parental balanced translocation. A review of 44 cases from 35 studies revealed that the clinical manifestations have been quite varied, depending upon the amount of 3p2 material in the trisomic state, but interestingly a recognizable pattern of features was obvious in those cases whose cytogenetic findings and clinical histories were known.
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PMID:Molecular characterization of trisomic segment 3p24.1-->3pter: a case with review of the literature. 758 45

A 1-year-and-9-months old boy with gait disturbance during the 3rd week of Kawasaki disease (KD) was described. He had been previously healthy, and developed high fever and rash. The diagnosis of KD was based on 5 of 6 major criteria on the 3rd clinical day. He was initially treated with intravenous gamma-globulin 400 mg/kg/day for five days. On the 17th clinical day, the patient developed gait disturbance after most clinical signs disappeared. His gait was wide- based and unstable. Generalized hypotonia with poor traction response was also seen. Pyramidal tract signs including exaggerated patellar and Achilles tendon reflexes and positive bilateral Mendel-Bechterew reflex were presented. Cerebrospinal fluid was normal. Brain CT, MRI, and 123I-IMP SPECT images were normal without broad hemorrhage or infarction of the cerebral parenchyma. Gait disturbance recovered spontaneously within one month without any sequelae.
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PMID:[Neurological involvements with transient gait disturbance in subacute phase of Kawasaki disease; a case report]. 761 94

A 1-month-old Japanese girl had profound generalized weakness, hypotonia, and severe lactic acidosis. The infant improved gradually: she held her head at 9 months, learned to walk by 15 months. At the first muscle biopsy at 11 weeks of age, the specimen was characterized by numerous ragged-red fibers and decreased enzyme activity on cytochrome c oxidase (COX) staining. Electron microscopic findings were characterized by the presence of excessive abnormal mitochondria not only in skeletal muscle fibers but also in blood vessels. Vascular abnormalities consisted of an increased number of enlarged mitochondria in endothelial and smooth muscle cells of small arteries. Biochemical analysis showed an isolated defect of COX activity, which was only 16% of the mean control level. At the second biopsy at 44 months of age, the COX activity had increased to normal in the entire specimen. On electron microscopy, the abnormal mitochondria present on the first biopsy specimen had disappeared both in muscle fibers and blood vessels; nearly all mitochondria were morphologically normal at the second biopsy. Now at 5 years of age she can run and does not show muscle weakness. We report reversibility of abnormal mitochondria with age not only in skeletal muscle fibers but also in blood vessels in a patient, who had reversible COX deficiency with a benign clinical course.
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PMID:Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency. 887 44

A 1-month-old infant with Peters anomaly had recurrent episodes of unresponsiveness, hypotension, hypotonia, hypothermia, and bradycardia. An extensive medical evaluation determined these episodes to be caused by brimonidine, an anti-glaucoma agent. There is the potential for serious toxic effects from the systemic absorption of topically applied ophthalmic agents in children.
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PMID:Ophthalmic drops causing coma in an infant. 1200 70

A 1.5-year-old boy with macrocephaly due to a Dandy-Walker malformation presented with progressive hydrocephalus, extensive muscular hypotonia, transient cholestatic syndrome, extensive coagulation abnormalities and elevated creatine kinase indicating myopathy. Diagnostic work-up indicated a congenital disorder of glycosylation (CDG, formerly carbohydrate deficient glycoprotein syndrome). The serum transferrin pattern obtained by automated isoelectric focusing (IEF) showed an hitherto unreported pattern with strongly elevated tri-, di-, mono- and asialotransferrin bands, increasing in this order together with markedly decreased tetrasialotransferrin. Investigation of two additional glycoproteins, alpha(1)-antitrypsin and alpha(1)-antichymotrypsin, confirmed a generalised defect of glycosylation. All known glycosylation defects could be ruled out by enzymatic analyses in either leukocytes or fibroblasts or by the results obtained by IEF. SDS-electrophoresis demonstrated a marked difference in the molecular weight of transferrin, suggesting the lack of parts or of all oligosaccharide chains. The defect could be delineated to a deficiency of beta-1,4-galactosyltransferase (E.C.2.4.1.38) due to a homozygous insertion (1031 - 1032 insC). Details of the biochemical and molecular findings will be described elsewhere.
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PMID:Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. 1193 Feb 73

Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature.
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PMID:Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. 1536 14

A 1-year-old boy with weight loss, decreased activity, and psychomotor regression is presented. He was subjected to an extremely detailed evaluation, including electroencephalography (EEG) and magnetic resonance imaging (MRI), until a simple hemogram in our center revealed that he had macrocytic anemia with megaloblastic changes in the bone marrow. His history revealed that he had been exclusively breast-fed by his vegetarian mother. Further investigations showed low serum vitamin B12 concentration, methylmalonic aciduria, and homocysteinemia, indicating that the macrocytic anemia was due to vitamin B12 deficiency. This boy represents a case of macrocytic anemia and hypotonia owing to vitamin B12 deficiency that developed because of exclusive breast-feeding by a vegetarian mother.
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PMID:Answer to hypotonia: a simple hemogram. 1641 68

Percutaneous endoscopic gastrostomy (PEG) is a common technique for gastrostomy placement. However, certain children may not be candidates for PEG, such as those with craniofacial or foregut anomalies and prior surgery. Laparoscopic gastrostomy has also gained popularity, but this requires 2 or 3 trocar sites. The use of a larger single operating laparoscope or multiple-port laparoscopic techniques may not be practical in small children and infants. We describe a simple technique for gastrostomy tube placement in infants using a 4-mm operative bronchoscope. A 1.4-kg infant with a cleft palate and hypotonia underwent general anesthesia. A 5-mm laparoscopic port was placed in the left upper quadrant at the site of the intended gastrostomy. Following pneumoperitoneum, a 4-mm bronchoscopic optical grasper was inserted into the abdomen via the single port. The stomach was grasped and pulled out through the port site. The extracorporeal portion of stomach was matured as a gastrostomy. A low-profile gastrostomy button was placed. Proper position of the gastrostomy device was verified intraoperatively using dye. At 2 months follow-up, the child and gastrostomy are without complication. This technique is minimally invasive and provides direct visualization through one 5-mm abdominal port without the requirement of endoscopy and blind percutaneous entrance into the abdominal cavity. This single-site laparoscopic gastrostomy may be a practical alternative for infants who may not be candidates for PEG or larger single-port operating systems.
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PMID:Single site laparoscopic gastrostomy with a 4-mm bronchoscopic optical grasper. 2015 77

We describe a 3.5 year old girl presenting with short stature, developmental delay, marked muscular hypotonia with ataxia, premature pubarche, and dysmorphic features. A 1.07-1.12Mb-sized de novo microdeletion of chromosome 19p13.11 is most likely the cause for the clinical phenotype. The patient did not show any abnormalities of the extremities which contrasts with the finding of one previously reported patient with an overlapping deletion presenting with split hand and foot malformation (SHFM). The remarkable difference is that in the previously described patient but not in the patient reported herein the genes EPS15L1 and CALR3 were deleted. As EPS15L1 has been associated with limb development previously, the presented case provides indirect evidence that this may be a new candidate gene for SHFM. A possible genotype-phenotype correlation is provided based on literature review and comparison of our patient to the previously reported patients with overlapping or partly overlapping copy number variations in 19p13.11.
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PMID:A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. 2170 2

Microdeletion 4q21 syndrome has been described in about a dozen patients with deletions ranging from 3.2 to 15.1 MB with similar features including the distinctive facial characteristics of broad forehead, hypertelorism, and prominent front teeth, with severe growth delay, developmental delay, and neonatal hypotonia. A 1.37 MB minimal critical region has been described that accounts for this shared phenotype and includes five known genes: PRKG2, RASGEF1B, HNRNPD, HNRPDL, and ENOPH1. We report on two new patients found through single nucleotide polymorphism (SNP) microarray testing that expand the reported phenotype. Patient 1 has a novel deletion of 2.0 MB, the smallest reported deletion, which involves only a partial deletion of the minimal critical region, including the genes HNRNPD, HNRPDL, and ENOPH1. She shares much of the typical phenotype including moderate developmental delay, unusual facial features, small hands and feet, but not any growth delay or neonatal hypotonia. This patient allows further genotype-phenotype correlation of the genes in the minimal critical region, and supports that heterozygous loss of PRKG2 leads to the growth delay. Patient 2 has a novel 3.4 MB deletion that includes the entire critical region, and has typical features, but also presented with cleft palate and Pierre Robin sequence, which have not been previously described. A gene reported to be associated with inherited cleft palate, SCD5, is in the deleted region in this patient, which suggests it may be playing a role in palate formation. Taken together, these patients allow for an expansion of the microdeletion 4q21 syndrome and provide candidate genes for particular features of the phenotype.
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PMID:Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence. 2391 59


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