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)

Notwithstanding the legalization of abortions because of social indications, acute renal insufficiency after septic and criminal abortions still constitutes a high percentage of cases to be treated in the dialysis department. This article reports on 26 cases of acute renal insufficiency after criminal or septic abortions and on their complications. All cases were characterized by a marked hyperthermia for 2-4 days, marked hyperleucocystosis, early onset of anemia with intravascualr hemolysis and protracted hypotonia. Early introduction of exchange blood transfusion decreased the signs of anemia and stopped the development of intravascular hemolysis, but did not change in any significant way the course of acute renal insufficiency. In the study presented here, 4 women deceased within 2-3 hours after admission; in conclusion, treatment was unsuccessful in 16 cases, and lethal exit occurred in 10 cases. Treatment was successful in 5 out of 14 cases after criminal abortion, and in 11 cases after septic abortion. Better results were observed in those patients where the proper diuretic therapy and exchange blood transfusions or dialysis were undertaken in the first 3 days after abortion. That is why it is recommended to transfer patients with acute renal insufficiency subsequent to criminal or septic abortion to the dialysis department in the first 24 to 48 hours after abortion. (Author's modified)
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PMID:[Acute renal insufficiency after criminal and septic abortion]. 54 51

The symptoms of the tourniquet syndrome (hypotonia, tachycardia, postischemic edema, hypercaliemia, metabolic acidosis, myoglobinuria, renal insufficiency) could be observed after embolectomy of saddle embolism in 37 patients. 19 patients died postoperatively; heart insufficiency was demonstrated by autopsy in 14 patients. The pathophysiology of heart failure in tourniquet syndrome was studied in dog experiments after unilateral and bilateral hind limb ischemia. The development of shock turned out to be more severe after bilateral ischemia--comparable to saddle embolism--than after unilateral ischemia. The course of heart failure after recirculation could be referred to hypercaliemia, hypermagnesiemia, metabolic acidosis and hemoconcentration. The prophylaxis of the tourniquet syndrome can be practised by knowing the pathogenesis.
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PMID:[The tourniquet-syndrome--a severe complication after embolectomy of saddle embolism (author's transl)]. 108 27

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.
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PMID:[Cerebro-oculo-hepato-renal syndrome (Arima's syndrome) with slowly progressive renal insufficiency and epilepsy]. 176 Feb 7

An autopsy case of 23-years-old man with Prader-Labhart-Willi syndrome (P-L-W syndrome), who had died by acute renal failure due to burn injury, was reported. P-L-W syndrome was constituted by hypotonia, hypogonadism, hypomentia, obesity and other minor anomalies, however, CNS anomaly had not been reported. The patient sat at 3 years of age, walked at 4 years old, began to utter single words at 3-4 years, and he began to obese at 4 years of age. He fulfilled the condition of P-L-W syndrome mentioned above. On his age 15, laboratory findings on admission revealed remarkable diabetic pattern by oral glucose tolerance test and intelligence quotient was 28, and the other laboratory findings were within normal limit. During his clinical history, complications of diabetes mellitus, such as diabetic retinopathy and neuropathy, were aggrevated, and upstanding and gait were impossible at 20 years of age. On his age 23, he suffered from burn injury at left lower extremity and he fell in acute renal insufficiency. Five autopsy cases of P-L-W syndrome have been reported so far, however, CNS anomaly has not been observed. Following anomalies in our case was recognized, such as shortness of the frontal lobe, partial micropolygyria of the dentate nucleus, heterotopia of the inferior olivary nucleus, ectopia of Purkinje cell in the molecular layer, heterotopia of middle sized neuron in the deep white matter of the cerebellum and large number of residual nerve cells in the cerebral subcortical white matter.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of Prader-Labhart-Willi syndrome]. 407 78

We report a rare case of a female newborn presenting with muscular hypotonia, pneumonia, and cardiovascular and renal insufficiency. Adrenal insufficiency was diagnosed clinically and proven by extremely low cortisone (0.4-0.8 microgram/dl) and high ACTH plasma levels. Myopathy was diagnosed clinically, as well as by muscular biopsy. DNA analysis of both X chromosomes showed no abnormality in the region of the genes for adrenal hypoplasia and Duchenne muscular dystrophy. After 4 weeks of intensive care therapy the patient died of multiorgan failure. At autopsy she had only microscopically visible fetal adrenal cells and multiple porencephalic lesions.
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PMID:[Congenital adrenal gland insufficiency and myopathy]. 770 32

A term male newborn, appropriate for gestational age, developed hypothermia, severe cardiac dysrrhythmia, and nonoliguric hyperkalemia within 24 hours of birth. Despite the prenatal identification of cystic renal dysplasia without oligohydramnios, at birth, a solitary left leg vascular hemangioma and large palpable kidneys were the only anomalies. Gradually hypotonia, lethargy, and poor feeding developed and by 20 hours of age recurrent cardiac dysrrhythmias, myocardial dysfunction, and renal insufficiency with intermittent hyperkalemia were apparent. Episodes of apnea developed on day 7 followed by respiratory failure, recurrent cardiac dysrrhythmias, and death on day 12. Eventually laboratory and autopsy findings confirmed the diagnosis of lethal neonatal carnitine palmitoyltransferase II deficiency.
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PMID:Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. 1263 78