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)

We reported an additional case of Arima's syndrome with slowly progressive renal insufficiency and epilepsy. The patient is a 20-year-old man whose parents are consanguineous. He had a history of mild asphyxia at birth, and unexplained tachypnea developed during the neonatal period. But it disappeared later, and he have had no respiratory problem since then. Physical examination on admission at the age of 19 years revealed bilateral blephaloptosis, narrow palate, searching nystagmoid movement, absence of light reflex, muscle hypotonia and wasting of extremities. Funduscopic study showed optic hypoplasia, choroid coloboma and narrowing of vessels. Head CT scan showed agenesis of cerebellar vermis and hypoplasia of brainstem. CT scan and echography of the kidney disclosed the bilateral multiple cysts. Liver was hyperechoic in echographic study; this finding is consistent with fatty change. EEG showed dysrhythmic slow wave activity with sporadic spike and wave complex. Compared with previously reported cases, the present case has the following features: (1) slowly progressive renal insufficiency, (2) generalized tonic clonic convulsion developing from the age of 11 months, (3) ABR abnormalities including the right-sided shortening of wave I-II interpeak latency and bilateral ill-defined wave V. Slow progress of renal failure in our case may reflect the mild pathological process of the kidney with sparing functional nephrons. It shows the diversity of the kidney pathology in Arima's syndrome. Epilepsy is a less common association in the syndrome, whereas EEG abnormalities were reported. ABR abnormalities may reflect the morphological alteration of the brainstem structure including auditory pathway. In our case it is uncertain whether the neonatal tachypnea was due to birth asphyxia or brainstem malformation responsible for abnormal respiration as suggested in Joubert's syndrome.
 ...
PMID:[Cerebro-oculo-hepato-renal syndrome (Arima's syndrome) with slowly progressive renal insufficiency and epilepsy]. 176 Feb 7

Myopathy may be associated with the syndrome of seroconversion in individuals infected by the human immunodeficiency virus (HIV) or may represent the initial symptom of AIDS. In 1990, 39-year old white, single homosexual who was admitted 1 month prior had experienced an episode of edema and pain in the left thigh that faded with the use of nonhormonal antiinflammatory drugs. 15 days later both forearms became enlarged accompanied by pain and erythema. Erythromycin and cefalexine were used without success. Intermittent fever started to appear before admission accompanied by dyspnea when straining. Examination showed tachypnea, oral candidiasis, and enlargement of both upper arms with pain and local erythema without articular involvement. Neurological examination revealed hypotonia and generalized hyperreflexia with intact muscle strength. Serology was positive for HIV, rheumatic activity tests were negative, and muscle biopsy indicated multifocal myonecrosis. Creatinine phosphokinase was 1019 IU (decrease to 44 IU after treatment), aldolase was 19 IU (decrease to 5.6 IU), and glutamic-pyruvic transminase was 50 IU (decrease to 22 IU). Radiography of the thorax indicated interstitial infiltration. Fiberoptic bronchoscopy indicated Pneumocystis carinii pneumonia. Sulfamethoxazole and trimetropim treatment cured the dyspnea and hypoxemia, but the enlargement of both arms progressed. Capillaroscopy indicated vasculitis that was treated without success with indomethacin (150 mg/day), for 7 days; prednisone (40-80 mg/day) for 10 days; and dexamethasone (280 mg/day) for 2 days. 6 days after methotrexate (50 mg/dose/week) treatment the fever disappeared and the enlargement in the extremities receded, but a lower dose of 7.5 mg caused the return of fever and edema in the right thigh. The myopathy remained asymptomatic for 5 months with a weekly dose of 15 mg of methotrexate.
 ...
PMID:[AIDS and myopathy: report of a case and review of the literature]. 180 40

The predictive values of some early post-traumatic clinical symptoms and signs and laboratory tests on the problems, complications and prognosis of the initial treatment of tetraplegic patients were studied. The study was carried out by scrutinizing the files of 54 patients with a cervical spinal cord injury (40 of them complete and 14 incomplete). Most of the patients (n = 43) needed ventilatory support, the duration of which depended on the level and completeness of the spinal cord injury. Bradycardia, hypotonia and tachypnoea at admission occurred most frequently in those patients who later developed complications or died. In addition, the frequency of complications correlated with a patient's age, previous diseases and with the height and degree of the spinal cord injury. Tachypnoea on admission forecast the later development of respiratory complications. All 8 patients who died, 5 of them from pneumonia and 3 from pulmonary embolism, had their spinal cord injury at the level C4 to C5 and they were significantly older than those who survived.
 ...
PMID:Cervical spinal cord injury: the correlations of initial clinical features and blood gas analyses with early prognosis. 249 25

We report four cases with the rare syndrome of tecto-cerebellar dysraphia with occipital encephalocele. The clinical features seen in these patients included episodic tachypnea and irregular breathing, opsoclonus, ataxia, marked hypotonia of the limbs, coloboma, and polydactyly. All four patients had midline occipital encephalocele. The cranial computed tomography scan showed partial to total agenesis of the vermis with a large communication between cisterna magna and the fourth ventricle. The computed tomography scan also showed partial deficiency of the midbrain tectum. We discuss the clinical and radiological findings and review the literature.
 ...
PMID:Tecto-cerebellar dysraphia with occipital encephalocele. 292 26

We have observed a distinct clinical syndrome amongst acutely unwell children frequently associated with the administration of a traditional medicine enema. We describe the clinicopathological features of this 'enema syndrome' based on retrospective case note review of 50 consecutive admissions to a South African rural district hospital. Admission was frequently prompted by sudden, marked clinical deterioration following enema administration (68% seen within 24 h). Respiratory distress with tachypnoea, abdominal distension, hypotonia and loss of consciousness occurred frequently. In-hospital mortality was 28% and was higher in those receiving herbal (43%) rather than chemical (21%) enemas. Hyperkalaemia, leucocytosis (> 15,000 mm3) and respiratory distress occurred more frequently in those who died. Diagnosis of an underlying illness was established in 78%. Whilst the majority of enemas are given without incident, children struggling with an underlying illness may be unable to tolerate rectally administered traditional medicines. Toxic chemical substances in frequent use may increase complication rates.
 ...
PMID:Paediatric enema syndrome in a rural African setting. 992 75

Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricle. Prenatal hydrocephalus has been proposed as a possible etiology for the cerebellar abnormalities but has not previously been described in association with this syndrome. The authors report a patient with clinical and radiographic features consistent with Joubert's syndrome who presented with congenital hydrocephalus.
 ...
PMID:Joubert's syndrome and prenatal hydrocephalus. 1037 91

We describe an 8-day-old baby girl presenting a fatal infantile form of hypertrophic obstructive cardiomyopathy, associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene. She was born from a healthy unrelated couple, and was the first infant of dizygotic twins. Soon after birth, she was noted to have tachypnea and generalized hypotonia. She had high levels of lactate and pyruvate, and was diagnosed as having hypertrophic cardiomyopathy using echocardiography. She died by cardiac failure. Mitochondrial DNA analysis was performed by sequencing after PCR-subcloning methods, and the percentage of mutation was measured using PCR-RFLP methods. In various tissues obtained at autopsy, analysis showed a heteroplasmic population of A8296G mutation in the mitochondrial tRNA(Lys) gene in all the tissues examined. Maternal inheritance was demonstrated in the family members. Our data demonstrated that an A8296G mutation in the mitochondrial tRNA(Lys) gene showed clinical heterogeneity from a milder form previously reported as mitochondrial diabetes mellitus, to a more severe form as hypertrophic obstructive cardiomyopathy, according to the spatial distribution of this mutation. Hum Mutat 15:382, 2000.
 ...
PMID:Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene. 1073 88

We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus.
 ...
PMID:OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. 1199 90

Infectious diseases belong to the most frequent reasons to seek emergency care. Life-threatening infectious emergencies, which require rapid diagnosis and hospitalisation, are, however, rare. Leading signs and symptoms are high fever combined with rapidly deteriorating general conditions, hypotonia, tachycardia, tachypnea, dyspnea, confusion, headache, or petechia or information about asplenia, immunosuppression or recent travel to the tropics. Life threatening situations, such as suspicion of invasive meningococcal infection or bacterial infection in an asplenic patient, septic-toxic shock, and acute bacterial meningitis with delayed hospitalisation require rapid start of empiric antibiotic therapy in the outpatient practice. In addition, acute infectious emergencies comprise situation for which post exposure prophylaxis is indicated.
 ...
PMID:[Acute infectious emergencies in adults in medical practice]. 1599 31

Joubert syndrome is a rare genetic disorder characterised by dysplasia of the cerebellar vermis and a malformed brainstem causing ataxia, tachypnoea, nystagmus, hypotonia and mental retardation. An early case of a two-month-old infant presenting with the symptoms mentioned above with the diagnosis of Joubert syndrome is presented here. MRI revealed characteristic "molar tooth" appearance of superior cerebellar peduncles. This case is unusual as it was diagnosed in early infancy.
 ...
PMID:Joubert syndrome: a major brain malformation. 1817 93


1 2 3 Next >>