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)

A 73-year-old woman (patient 1) developed progressive mental deterioration at age 63, and seizures at age 70. On examination, she showed severe dementia, tonic clonic convulsion, hypotonia and muscular wasting. There was neither myoclonus nor cerebellar ataxia. Brain CT revealed a low density area in the right occipital lobe. A 44-year-old man (son of the patient 1) developed unsteady gait at age 15, muscle twitching at age 18 and then noticed speech disturbance at age 35. He had no history of convulsive seizure. Neurological examination showed cerebellar ataxia, myoclonus in the extremities and mild muscular weakness. His intelligence was normal. Brain CT showed moderate atrophy of the pons and the cerebellum. Both cases showed the same mitochondrial DNA mutation as reported previously in patients with MERRF. However, the clinical features, the age of onset and the brain CT findings were totally different between these 2 cases. In the progress of mitochondrial genetic analysis, atypical forms in MERRF like the patient 1 would increase in number, and the wide variation of clinical symptoms should be considered.
 ...
PMID:[Two cases of MERRF (myoclonus epilepsy associated with ragged red fibers) showing different clinical features in the same family]. 812 82

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.
 ...
PMID:Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency. 840 71

A patient with Prader-Willi syndrome developed bronchospasm during anesthesia. The patient was a 9-year-old boy and was scheduled for orchiopexy. His psychomotor development was delayed, and at 12 months of age he was diagnosed as Prader-Willi syndrome by chromosomal examination. The patient weighed 17 kg, was 111 cm tall, and had no symptom of upper respiratory infection preoperatively. Preoperative examinations were normal except supraventricular extrasystole in electrocardiogram. Following administration of scopolamine 0.15 mg intramuscularly as preanesthetic medication, anesthesia was induced smoothly by slow induction using N2O-O2-sevoflurane. However, right after endotracheal intubation with vecuronium 2 mg, remarkable stridor was noticed. Despite hyperventilation, the patient exhibited hypercapnia, and the diagnosis of bronchospasm was made. Aminophylline and steroid were administered intravenously and halothane was inhaled instead of sevoflurane. The bronchospasm was improved gradually and surgery was finished. Prader-Willi syndrome is an uncommon disease first reported by Prader in 1956 and characterized by hypotonia, hypomentia, hypogonadism and obesity. In the perioperative management for a patient with Prader-Willi syndrome, special attention must be paid to the abnormalities in the upper and lower respiratory systems.
 ...
PMID:[Bronchospasm during anesthesia in a patient with Prader-Willi syndrome]. 858 65

We describe a single male infant who developed severe hydrops fetalis between 19 and 28 weeks of gestation. After delivery at 32 weeks he was treated by hemofiltration, prolonged ventilation and intravenous feeding. He had hypertelorism, orbital hypoplasia without proptosis, brachydactyly, frontal and temporal bossing of the skull, central hypotonia, communicating hydrocephalus, and severe delay in psychomotor development. Signs of connective tissue disorder included: osteopenia, pathological fracture, yellow/grey discolored teeth, blue sclerae and easy bruising. Laboratory investigations failed to reveal the cause of fetal hydrops or collagen abnormality. His mother and one sib had learning difficulties. Although some of these findings may be due to perinatal factors, the connective tissue abnormalities suggest a genetic syndrome in the heterogeneous group of osteogenesis imperfecta. This case either represents the more severe end of the spectrum of Type IV osteogenesis imperfecta or the mild end of the spectrum of Cole-Carpenter syndrome.
 ...
PMID:Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus. 893 75

We report on two male siblings with an oro-facial-digital syndrome. The parents and two other siblings, a boy and a girl, are unaffected. The clinical findings on the reported brothers were different. Patient 1 had typical oral, facial and digital anomalies plus hypoplastic genitalia and short limbs. Clinically he had marked hypotonia, convulsions and apneic episodes. He died shortly after birth. His brother, Patient 2, had OFD features with conductive hearing loss and normal psychomental development. He did not have syndactylous reduplication of the great toes, although the toes were disproportionately large. These two patients are classified as OFD type II-Mohr syndrome. Involvement of the central nervous system in OFD type II is noted. Different phenotypic findings could be explained as variable gene expressivity. The patients described here support the hypothesis that the clinical variability of the Mohr syndrome is even wider than previously thought.
 ...
PMID:Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings. 883 25

We describe two boys with the cerebro-costo-mandibular syndrome (CCMS). Both patients presented with Pierre Robin anomaly and respiratory insufficiency and died 12 hours and 10 months after birth. The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short palate, preauricular tag, paraumbilical fibroma, and a small and narrow thorax. His chest roentgenographs showed marked hypoplasia of the first to tenth rib, multiple posterior rib-gaps in the only four ossified ribs. Tracheomalacia and stenosis of the left ureter was observed during autopsy. No structural cerebral anomalies were observed. Respiratory distress necessitated a tracheostomy in the second boy. He had severe micrognathia with glossoptosis and a cleft soft palate were noted. His chest roentgenograph showed a bell-shaped, small thorax with multiple dorsal rib-gap defects. CCMS is a rare disorder often associated with Pierre Robin anomaly. Chest roentgenographs show the typical posterior rib-gap defects, which are quite variable. CCMS usually occurs as an isolated event in a family. Of 41 reported families four reports describe horizontal and two describe vertical transmission of CCMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance. Inter- and intrafamilial expression is variable. Careful family studies are necessary before genetic counseling is given.
 ...
PMID:Cerebro-costo-mandibular syndrome. 888 89

We report a 63-year-old man with progressive gait disturbance and dysarthria. The patient was apparently well until the age of 62 (February, 1990) when he noted unsteadiness of gait. Two months later, dysarthria appeared. He was admitted to Juntendo Izunagaoka Hospital on April 23, 1990. Neurologic examination revealed a mentally sound man with normal higher cerebral functions. Cranial nerves were unremarkable except for scanning speech. His gait was ataxic with positive Romberg sign. No motor weakness was noted, however, he had hypotonia and cerebellar ataxia. Deep tendon reflexes were retained and the plantar response was flexor. Pain, touch and vibration senses were diminished in the distal parts of the lower extremities. Laboratory examination revealed a 2.5 cm mass in the left lung field. Cranial MRI revealed a small T1-low and T2-high signal intensity lesion in the left temporal lobe. Abdominal CT scan revealed multiple low density lesions in the liver. His subsequent course was complicated by progressive deterioration in his gait and loss of deep tendon reflexes. He expired on November 24, 1990. The patient was discussed in the neurological CPC and the chief discussant arrived at the conclusion that the patient had anti-Hu associated paraneoplastic encephalomyelitis and sensory neuropathy. Some other participants thought that the patient had carcinomatous cerebellar degeneration. Postmortem examination revealed a 4x4 cm mass lesion involving the left S4-S5 segments. Histologic examination of the tumor was small cell carcinoma. Many metastatic foci were found in the liver. The cerebral hemispheres were unremarkable except for a small wedge-shaped tissue defect in the left temporal lobe which appeared to have been caused by old head trauma which the patient had received. The cerebellar vermis showed slight enlargement of cortical sulci, however, the cerebellar hemispheres appeared unremarkable. Upon histologic examination, marked loss of Purkinje cells was noted, particularly in the cerebellar anterior lobe. The dentate nucleus showed slight cell loss with increase in fat granule cells. The inferior olive was normal. The histologic characteristics were consistent with the pathologic diagnosis of carcinomatous cerebellar degeneration. No evidence of limbic encephalitis was seen. The peripheral nerve was not examined.
 ...
PMID:[A 63 year-old man with progressive gait disturbance and dysarthria]. 888 38

A boy with multiple congenital anomalies including median cleft palate, bilateral hearing loss, clino- and camptodactyly, bilateral single palmar flexion creases, severe hypotonia with kyphoscoliosis and respiratory insufficiency, failure to thrive, bilateral cryptorchidism and facial dysmorphism (epicanthus, a flat nasal bridge, a small mouth, a small nose with anteverted nostrils, low-set ears, a prominent forehead, microretrognathia) is presented. His mother has a median cleft palate, bilateral hearing loss, single palmar flexion creases, and short stature. An autosomal or X-linked dominant syndrome with more severe expression in the proband than in his mother is suggested.
 ...
PMID:New syndrome or severe expression of Gordon syndrome? A case report. 901 17

Asphyxia may play an important role in the pathogenesis of cerebral palsy (CP) in a subpopulation of patients, although this has recently been questioned by some investigators. Here I describe the results of our analyses into the involuntary movements of children with CP, which resulted from perinatal hypoxic brain damages. Based on cranial CT or MRI findings, the patients were divided into five groups: A, those showing high density on CT in the basal nuclei (bilateral thalami in particular); B, those showing destruction of bilateral putamina; C, those with diffuse low-density areas in the cerebral white matter on CT during the neonatal period that evolved later into polycystic leukomalacia; D, those with similar low-density areas which subsequently resolved; and E, those without any pathological findings. Using video records, I demonstrated the motor development of six cases with CP. Patients of Group A showed pure athetosis with hypotonia. A patient of Group B had severe athetoid CP with spasticity, being unable to right his trunk and neck. A case of Group C developed severe spastic quadriplegia with athetosis. His mental ability was retained to some extent. In Group D, there was moderate spasticity and mild athetosis. A patient with transient anxia had disturbance in the coordinated finger movements. Cases with choreic movements had no particular CT or MRI findings. Even in the severest of these cases, distinction from normal infants was difficult in the very early infancy. After four to five months, locomotive prognoses were well predicted by the patients' ability to control their trunk. To know more about the pathogenesis and CP and to elucidate the significance of involuntary movements, further data should be accumulated by clinical observations on motor development, and by imaging studies.
 ...
PMID:[Involuntary movements and birth injuries to brain]. 914 27

We describe two cousins with severe infantile form of myotubular myopathy. In Japan this disease has previously been reported in only three families. Case 1. The propositus, a 2-year-5-month-old boy, had been on a respirator since birth. He had a history of severe neonatal asphyxia and sequential hypotonia with dyspnea. Findings diagnostic of congenital myotubular myopathy, such as central nuclei and peripheral halo of muscle fibers, were demonstrated in his biopsied muscle. Case 2. A male the cousin of case 1 had congenital myopathy and died at 3 months of age due to respiratory failure. His muscle biopsy disclosed the identical findings as had been seen in case 1. These two cases were born to twin mothers, suggesting X-linked recessive inheritance. Early diagnosis and proper treatment of myotubular myopathy are important, because this condition may be erroneously-interpreted as the sequelae of neonatal asphyxia.
 ...
PMID:[Cousins with X-linked recessive myotubular myopathy]. 924 91


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>