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

Posterior fossa malformations are a special group of central nervous system anomalies that present during infancy with hypotonia, developmental delay, microcephaly, or hydrocephalus. Recent discoveries of the genetic and epigenetic factors that control hindbrain ontogenesis explain some of these disturbances in cerebellar development. A comprehensive classification of posterior fossa malformations is proposed with particular attention to Dandy-Walker malformation, Joubert syndrome, and other cerebellar hypoplasias. A rare form of cerebellar hypertrophy which caused repeated obstruction at the foramen magnum is recognized. The importance of the cerebellum in language, cognition, and brain growth is stressed.
 ...
PMID:Malformations of the posterior fossa: current perspectives. 1252 56

We report a 14-month-old girl with submucous cleft palate, resolving mild hydrocephalus, severe hypotonia and joint contractures. The finding of extreme hydrocephalus, cleft palate and club feet in a fetus of the mother's previous pregnancy suggested an inherited defect. Chromosome analysis and FISH studies in the proband revealed an abnormal homolog 13 resulting in a duplication of distal chromosome 7q, 7q35-qter, and a very small associated deletion of distal chromosome 13q, 13q34-qter. The mother showed the balanced translocation. Similar clinical signs have been described with larger distal 7q duplications. Our findings suggest that 7q35-qter, and possibly the gene for sonic hedgehog (SHH) on 7q36, is the critical region for the typical facial features and the profound hypotonia observed in the 'trisomy of distal 7q' syndrome.
 ...
PMID:Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. 1286 76

Muscle-eye-brain disease (MEB), is caused by mutations in the POMGnT1 gene. We describe a white family with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays. Brain magnetic resonance images (MRIs) showed hydrocephalus, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons. We identified novel POMGnT1 gene alterations in this family. Both affected siblings were found to be compound hetrozygotes and carried two missense changes inherited from their mother and one missense change (p.R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population.
 ...
PMID:POMGnT1 gene alterations in a family with neurological abnormalities. 1523 14

Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. cardinal signs in trisomies 22 subtypes: Distal trisomy 22 has been described in more than 15 individuals. The features are severe mental and growth retardation, failure to thrive, congenital hypotonia, hydrocephalus, microcephaly, cleft palate, epicanthic folds, low-set ears, broad prominent nasal bridge, long philtrum, micrognathia, finger-like thumbs, cryptorchidism. We describe a girl deceased at the age of 12 years and an 11 year old boy, both with a duplication of distal 22q due to a parental pericentric inversion (22) (p13q12). Their phenotypes are compatible with distal trisomy of chromosome 22. However, they did not present cleft palate, but the survival of both patients permitted us to discover sensorineural deafness not previously reported in this chromosomal duplication.
 ...
PMID:Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes. 1528 16

This report describes an 11 month old female baby with features of pentasomy X. A molecular and cytogenetic evaluation revealed that her karyotype was 49,XXXXX and her extra X chromosomes were of maternal origin. She has muscular hypotonia, mental retardation, a cleft palate, mild hydrocephalus as a result of dilatation of both lateral ventricles, hyperextensible elbow joints, proximal radioulnar synostosis, clinodactyly of the fifth finger, valgus of the feet, and small hands and feet. In addition, she has a persistent pupillary membrane and congenital chorioretinal atrophy. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non-dysjunctions.
 ...
PMID:A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. 1533 71

Uniparental disomy is a genetic cause of disease implicated in a wide variety of neurologic disorders. A recently identified condition is maternal uniparental disomy for chromosome 14 (mUPD14) syndrome. A child with hypotonia and developmental delay was found to have mUPD14 after identification of a balanced karyotypic rearrangement involving both chromosomes 14. We explore the genetic mechanisms by which uniparental disomy can cause clinical abnormalities and karyotypic findings that should raise suspicion for uniparental disomy, review the literature on the mUPD14, and discuss clinical indications on which to suspect this diagnosis. Although it is more difficult to establish a diagnosis in the absence of visible karyotypic abnormalities involving chromosome 14, a distinct phenotype exists in mUPD14 syndrome: in utero growth restriction, congenital hypotonia, gross motor delay, arrested hydrocephalus, mild to moderate mental retardation, joint hyperextensibility, short stature, and precocious puberty. Testing for mUPD14 should be considered in infants with generalized hypotonia who have a history of in utero growth restriction.
 ...
PMID:Maternal uniparental disomy chromosome 14: case report and literature review. 1566 72

We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed cerebellar vermis hypoplasia and ventriculomegaly. A tentative diagnosis of JBS was made, and autosomal recessive inheritance considered most likely. In a subsequent pregnancy that occurred after artificial donor insemination, ultrasound in the 22nd week revealed a Dandy-Walker malformation and hydrocephaly. At autopsy at 34 weeks of gestation, the male infant showed cerebellar vermis aplasia and abnormalities of the brainstem and cerebral cortex. He was considered to have the same disorder as his two half-brothers. This renders the pedigree highly suggestive of X-linked inheritance. The clinical symptoms of this syndrome resemble JBS. However, the absence of the molar tooth sign and the X-linked inheritance do not support JBS. We propose the name X-linked cerebral-cerebellar-coloboma syndrome to distinguish the two disorders. Differentiation of the two disorders is especially important in genetic counseling, where artificial donor insemination may be considered as a means of reducing the recurrence risk, or when female relatives of the patient are concerned.
 ...
PMID:Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome. 1588 74

The author's aim in reporting this case is to extend awareness of the importance of management of associated hydrocephalus among patients with syringomyelia to the posttraumatic state. A full-term infant was delivered by cesarean section because of transverse lie. In the 2nd week of life, hypotonia affecting the lower limbs and the left upper limb was recognized. On MR imaging, posterior fossa subdural hemorrhage and spinal cord injury at the T-1 and T-2 levels were evident. Sequential imaging studies demonstrated progressive myelomalacic changes in the cervical spinal cord and eventual development of syrinx cavities as far cephalad as C-3. Hydrocephalus developed simultaneously as well. A ventriculoperitoneal cerebrospinal fluid shunt was inserted at 22 months of age. Six months after shunt insertion, MR imaging demonstrated regression of the posttraumatic syringomyelia. The patient was stable from an imaging standpoint at 16 months after shunt insertion, and she has continued to make developmental progress. The importance of treatment of associated hydrocephalus is widely recognized in the management of syringomyelia associated with the Chiari malformations. It should be considered in the management of posttraumatic syringomyelia as well.
 ...
PMID:Progressive syringomyelia controlled by treatment of associated hydrocephalus in an infant with birth injury. Case report. 1637 Feb 92

We report a new case of megalencephaly and polymicrogyria with post-axial polydactyly and hydrocephalus (MPPH syndrome) in an 18-month-old girl. She was the first child of healthy non-consanguineous parents and measurements at birth were +3 standard deviations (S.D.) for weight, +2 S.D. for length and +4 S.D. for OFC. Ultrasound scan at 24 weeks of gestation (WG) showed mild ventriculomagaly with unique umbilical artery and dacryocystocele. Clinical examination at birth revealed macrosomia with macrocephaly, facial dysmorphism, post-axial polydactyly at the right hand and both feet, and axial hypotonia with hypertonic arms and legs. At 18 months of age, weight was +2 S.D., length was +2 S.D. and OFC was +4 S.D. She remained hypertonic, could not sit and had no hand use. Cerebral magnetic resonance imaging showed stable ventriculomegaly and polymicrogyria located on the frontal and perisylvian region with white matter hypersignal on T2-weighted images. There was no associated visceral malformation. Standard and high-resolution cytogenetic examination, telomeric FISH and array-CGH studies were normal. This case represents the sixth observation of MPPH syndrome as described by Mirzaa et al. in 2004. We provide further neurological follow-up since three out of five index patients were aged 6 months or less. We postulate that macrosomia at birth might be a major feature (five/six cases), with advanced bone age in the two/two investigated cases. White matter abnormalities might be an occasional feature of this syndrome (three/six cases), as well as dacryocystocele, if not coincidental (one/six case). The mode of inheritance of this syndrome remains unknown since there was no significant family history in all reported cases. The search for infracytogenetic chromosomal imbalance was unsuccessful.
 ...
PMID:A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. 1680 58

We present the clinical and laboratory features of a boy with a new syndrome of mitochondrial depletion syndrome and T cell immunodeficiency. The child suffered from severe recurrent infectious diseases, anemia, and thrombocytopenia. Clinically, he presented with severe psychomotor retardation, axial hypotonia, and a disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue. Brain imaging showed hypoplasia of corpus callosum and an impaired myelinization of the temporo-occipital region with consecutive supratentorial hydrocephalus. Histologic examination of a skeletal muscle biopsy was normal. Biochemical investigation showed combined deficiency of respiratory chain complexes II+III and IV. MtDNA depletion was found by real-time PCR. No pathogenic mutations were identified in the TK2, SUCLA2, DGUOK, and ECGF1 genes. A heterozygous missense mutation was found in POLG1. The pathogenic relevance of this mutation is unclear. Interestingly, a lack of CD8(+) T lymphocytes as well as NK cells was also observed. The percentage of CD45RO-expressing cells was decreased in activated CD8(+) T lymphocytes. Activation of T lymphocytes via IL-2 was diminished. The occurrence of the immunologic deficiency in our patient with mtDNA depletion is a rare finding, implying that cells of the immune system might also be affected by mitochondrial disease.
 ...
PMID:Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. 1685 57


<< Previous 1 2 3 4 5 6 7 8 9 Next >>