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)

The diagnosis, management, and long-term outcome of 32 patients with congenital central hypoventilation syndrome are summarized. Sleep hypoventilation was severe in all cases, resulting in an alveolar carbon dioxide pressure (mean +/- SEM) of 62 +/- 2.5 mm Hg and a hemoglobin saturation of 65% +/- 3.3% without ventilatory or arousal response. Awake hypoventilation on initial assessment was present in 12 of the 32 patients, resulting in an alveolar carbon dioxide pressure of 58 +/- 2.2 mm Hg and a hemoglobin saturation of 59% +/- 7%. Associated conditions included pulmonary hypertension or cor pulmonale or both (78%), heart block and sick sinus syndrome requiring a cardiac pacemaker (two patients), mild atrophy by cranial imaging evidence (40%), seizures (72%), normal brain-stem auditory evoked responses in all but one patient tested, ganglioneuroblastomas (one patient), Hirschsprung disease (16%), and ophthalmologic abnormalities (60%). Growth was deficient in 44% of patients; hypotonia or major motor delay or both were apparent in all. Twenty-two patients are living; 12 of them require continuous ventilatory support and 10 breathe spontaneously while awake and require ventilatory support while asleep. Ten patients have died. Autopsy performed in six cases indicated diffuse central nervous system astrocytosis, gliosis, and atrophy but no primary brain-stem abnormality. Although these data support a diffuse central nervous system process, the specific cause and the mode of inheritance remain unclear. With early diagnosis and careful ventilatory management, the sequelae of hypoxia and morbidity should be minimized and long-term outcome improved.
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PMID:Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children. 153 84

The paper reviews literature data on the incidence of pulmonary hemorrhage (PH) in various diseases (tuberculosis, chronic nonspecific lesions of the lungs, cancer); presents new evidence on PH pathogenesis, an underlying role of pulmonary hypertension and aneurysmic vascular rearrangement of the affected site. The system to control PH is staged and implies measures to achieve temporary and final arrest of bleeding. These are to promote enhancement of coagulation, inhibition of fibrinolysis, include endobronchial and endovascular hemostasis, radical surgery. A detailed description covers a technique of artificial controlled hypotonia under drug ganglionic blockade.
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PMID:[Methods for the control of pulmonary hemorrhage]. 180 67

The value of vasodilatatory treatment of pulmonary hypertension due to chronic obturative pulmonary disease (c.o.p.d.) is still controversial. However in patients with c.o.p.d. causal treatment as well as chronic domestic oxygen therapy have a wide range of limitations. Among vasodilator alpha-1 blockers show less vasodilator-related adverse effects, and as known from acute trials they exert a potent effect on pulmonary circulation in patients with pulmonary hypertension and c.o.p.d. Prazosin was studied in 11 patients (10 men, 1 women) aged 63 +/- 7 years with advanced c.o.p.d. (FVC 1.8 +/- 0.41, FEV1 0.99 +/- 0.55 l) (s) after their clinical stabilisation. In 4 of them prazosin was added to the maintenance dose of diuretics and digitalis. Subjective status, NYHA functional class, spirometric (FVC, FEV1) and gaseous (PaO2, PCO2) parameters, weight, systemic blood pressure, and heart rate were noted. During Swan-Ganz catheterization mean pulmonary artery pressure (MPAP), right ventricular end-diastolic pressure (RVEDP), pulmonary wedge pressure (PCWP), cardiac output (CO), systemic (SVR) and pulmonary (PVR) vascular resistance were measured. The acute trial with 1 mg prazosin taken orally was followed by 2- and 6-week of 3 mg prazosin treatment assessment. After a single dose of 1 mg prazosin there was a significant decrease in MPAP from 36 +/- 9 to 28 +/- 10 (p = 0.001) and 44% decrease in RVEDP (p = 0.05). CO increased by 16% (p = 0.01). The fall in PVR (30%, p = 0.01) exceeded that in SVR (17%, NS). No adverse effects were observed. During 2-week 3 mg a day prazosin therapy 2 patients were excluded following dyspnea and systemic hypotonia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical and hemodynamic evaluation of 6-week treatment of pulmonary hypertension in chronic obstructive lung diseases (COLD) with low dose of prazosin]. 208 1

Pulmonary hypertension without any cardiovascular malformation was diagnosed by heart catheterization in a 4 year old girl with trisomy 21. A suspected obstructive sleep apnea syndrome was confirmed by polysomnography which revealed numerous obstructive apneas and hypopneas (apnea-index 23/h) with marked oxygen desaturation and a disturbed sleep pattern. Three months after adenotonsillectomy the mother reported her daughter having a quiet sleep without snoring. Polysomnography did not show any apnea nor any oxygen desaturation below 90%. A decrease of the pulmonary artery pressure was documented. Facial dysmorphias and muscle hypotonia predispose patients with trisomy 21 to obstructive sleep apnea, especially if hypertrophy of tonsills and adenoids coexist. Frequent arousals and hypoxia during sleep can result in failure to thrive and pulmonary hypertension. These consequences can be prevented by early diagnosis and treatment.
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PMID:[Obstructive sleep apnea syndrome in a child with trisomy 21]. 215 Aug 74

Obstructive sleep apnea is the underlying cause of a variety of pediatric maladies, including pulmonary hypertension and failure to thrive. In children, unlike adults, obstruction secondary to lymphoid hyperplasia is often encountered; adenotonsillectomy restores airway patency. Patients who fail this procedure, such as children with cerebral palsy and associated muscular hypotonia, may face tracheotomies. We report on 10 pediatric patients with severe mental insufficiency and obstructive sleep apnea in whom palatal hypotonicity and lack of adenotonsillar hypertrophy was identified. Uvulopalatopharyngoplasty was performed in conjunction with adenotonsillectomy to enlarge the diameter of the nasopharyngeal inlet with successful resolution of the obstructive symptoms in eight patients. The remaining two children required more surgery. This procedure is presented as a possible alternative to tracheotomy in selected patients.
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PMID:Surgical therapy of obstructive sleep apnea in children with severe mental insufficiency. 232 9

We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome.
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PMID:Acrocallosal syndrome: new findings. 272 49

Four children were found to have clinically significant obstructive sleepapnea. Hypertrophy of the nasopharyngeal lymphoid tissue, specifically the adenoid and tonsils causing obstructive sleepapnea in children, is a well defined clinical entity with nocturnal CO2 retention, retarded growth and impaired physical and psychological status. A small number of these children may develop pulmonary hypertension, cor pulmonale and ultimately death. Children with only moderately enlarged tonsils in association with neuromuscular hypotonia and anatomical defects may also develop this syndrome. Polysomnographic monitoring during natural sleep proved useful in confirming the diagnosis. All patients had improved after surgical relief of airway obstruction. The subjective impressions were documented by objective improvement: normalization of growth curves, ECG improvement of cor pulmonale and improvement of bloodgasses. Increased awareness of obstructive sleepapnea and examination of the sleeping patient and polysomnographic monitoring should result in earlier treatment and less morbidity for children with obstructive sleepapnea.
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PMID:[Obstructive sleep apnea syndrome]. 652 17

Fifteen premature infants with severe chronic lung disease of prematurity were treated with ventilatory assistance and continuous positive airway pressure for at least 28 days. Fourteen developed progressive central nervous system deterioration following right heart failure and pulmonary hypertension. Two patterns of deterioration were observed: (1) cerebral, with loss of developmental milestones, increasing a hypotonia, and eventual EEG deterioration and death; and (2) brainstem, with progressive apnea, bradycardia, or both, and sudden death or irreversible apnea.
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PMID:Progressive central nervous system deterioration: a complication of advanced chronic lung disease of prematurity. 699 61

Two unrelated infants with low Apgar scores, pneumothoraces, and severe pulmonary hypertension were treated with extracorporeal membrane oxygenation while receiving chemical sedation and neuromuscular paralysis. After decannulation from extracorporeal membrane oxygenation, hypotonia and hypoventilation persisted. Neurologic evaluation confirmed that both infants had a congenital myopathy.
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PMID:Early-onset respiratory failure caused by severe congenital neuromuscular disease. 815 83

Nonketotic hyperglycinaemia (NKH) is an autosomal recessive disorder characterized by defective glycine degradation by the mitochondrial glycine cleavage system. The clinical features include lethargy, hypotonia, apnoea, seizures and severe psychomotor retardation, all attributed to the accumulation of glycine in the nervous system. Pulmonary hypertension (PHN) has not been reported in NKH. We describe four patients with NKH who had PHN in addition to the characteristic manifestations of NKH. This newly recognized association might provide additional insight into the underlying pathophysiology of PHN.
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PMID:Pulmonary hypertension associated with nonketotic hyperglycinaemia. 1080 Oct 55


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