Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypocalcemia is a relatively uncommon reversible cause of congestive heart failure. There are a few reports of hypocalcemic children who developed congestive heart failure associated with hypoparathyroidism. In all these patients, however, cardiac failure did not occur before the age of nine years. In addition, other striking noncardial manifestations of hypoparathyroidism, e.g., convulsive seizures, had been present prior to cardiac symptoms. We report on a 3.7 year old girl with mitral insufficiency and severe cardiac failure due to hypocalcemia secondary to familial hypoparathyroidism. The infant's mother was suffering from idiopathic hypoparathyroidism, but her own history lacked any evidence for parathyroid hormone deficiency. On admission, she presented with fatigue, dyspnea, and pedal edema. Liver edge was palpable 4 cm below the right costal margin, and a 3/6 systolic murmur was heard. A chest x-ray showed cardiac enlargement; electrocardiogram demonstrated a prolonged QTc interval of 0.46 s. The echocardiography revealed a cleft in the mitral valve with mitral insufficiency and markedly reduced contractility of the left ventricle. Laboratory studies demonstrated a low total serum calcium level of 1.3 mmol/l; serum magnesium level was slightly decreased (0.5 mmol/l), and parathyroid hormone level was not detectable. Partial monosomy of chromosome 22 was excluded. Ophthalmological examination, audiometry, and renal ultrasonogram were normal. Oral calcium supplementation and anticongestive therapy with metildigoxin, furosemid, and captopril was initiated but no improvement of the heart failure occurred. However, normalization of serum calcium level by calcium infusions caused prompt clearing of the clinical symptoms, complete normalization of liver size, reduction of cardiac enlargement (thoracic ratio decreased from 0.68 to 0.57), and marked improvement in contractility (left ventricular shortening fraction increased from 21% to 34%). The QTc interval decreased to 0.39 s. The successful treatment following normalization of serum calcium level proved the superiority of hypocalcemia over mitral valve insufficiency in the etiology of the cardiac failure. To our knowledge, this is the first report of congestive heart failure due to hypocalcemia as the first manifestation of hypoparathyroidism in childhood. Hypocalcemia should be kept in mind in any congestive heart failure in children with or without underlying cardiac malformation.
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PMID:[Hypocalcemia-induced heart failure as the initial symptom of hypoparathyroidism]. 1102 Dec 71

Valproate-related pedal edema is usually regarded as a problem occurring after long-term administration of valproate. Valproate has been a drug of choice for the treatment of generalized or partial seizures as monotherapy or adjunctive therapy, bipolar disorder, for the prophylaxis of migraine headache in adults. This case report described patient-acquiring bilateral pedal edema after long-term use of magnesium valproate. Discontinuing valproate resulted in rapid improvement of the condition. This adverse reaction to the best of our knowledge is first reported a case of bilateral pedal edema cause by magnesium valproate in low dose. The dose of magnesium valproate was 1200 mg/day. No previous case as reported with the same dose.
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PMID:Magnesium valproate-induced pedal edema on chronic therapy: A rare adverse drug reaction. 2951 82

Progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an unusual Mendelian phenotype of unidentified origin that causes profound intellectual disability, optic nerve/cerebellar atrophy, epileptic seizures, developmental progress, pedal edema, and early death. Uncharacteristic affected individuals are often classified as having PEHO-like syndrome, although they may be misdiagnosed as having epileptic encephalopathy, a potential result of early birth. In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome. The children were suffering from developmental delay, epilepsy, mental disability, optic nerve/cerebellar atrophy, and pedal edema. Whole exome sequencing was conducted for the members of the family who have the disorder to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation, identified a novel homozygous nonsense mutation c. 1292G > A, which was caused by p.Trp431* stop gain. This mutation was ruled out in 100 unrelated healthy controls. The nonsense homozygous mutation detected in this study has not yet been reported as pathogenic in the literature or various databases. In conclusion, a complete loss of protein function due to premature stop gain was caused by a mutation in exon 12 of CCDC88A. This loss may lead to PEHO phenotype. CCDC88A gene may therefore play an important and critical role for multiple aspects of normal human neurodevelopment.
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PMID:A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. 3039 57

Lupus nephritis (LN) is an immune-complex glomerulonephritis that is usually manifested by proteinuria, active urinary sediment, hypertension, and renal failure. The objective of this study is to study the clinical and histopathological profile of LN and the response to treatment with cyclophosphamide. This was a retrospective study conducted in a tertiary care center in Assam, India, where 176 LN patients who underwent renal biopsy were included. The presenting features, laboratory parameters such as proteinuria, hematuria, and the histopathological class of the patients were studied. Among the 176 patients, 89.8% were female and 10.2% were male and maximum patients (61.3%) were in the age group of 20-40 years. Pedal edema was present in 100% of the patients, decreased urine output in 43.7%, malar rash in 38%, joint pain in 42%, hair loss in 63%, hypertension in 41.4%, oral ulcers in 31.8%, seizures in 17%, psychosis in 13%, hematuriain 78.4%, anemia in 72.1%, thrombocytopenia in 51.1%, and leukopenia in 31.7% of patients. The anti-nuclear antibody was positive in all patients and anti-dsDNA was positive in 70.5% of the patients. The most common histopathological type was class IV (50%), followed by class III (17.6%). One hundred and two patients received intravenous cyclophosphamide as initial treatment of whom, 40 received the Eurolupus regimen and 62 received the NIH regimen. The number of patients who underwent remission in both the regimen was compared. The response rate of initial treatment with cyclophosphamide in the Eurolupus group was 62.5% and in the NIH group was 64.5% (P >0.05). Majority of the patients had proliferative LN in this study, of which class IV was the most common. Proliferative LN, if not detected and treated early, leads to poor outcome in terms of patient and renal survival. Hence, patients with systemic lupus erythematosus should be evaluated for kidney involvement and treated accordingly for better outcome.
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PMID:Clinical and histopathological profile of lupus nephritis and response to treatment with cyclophosphamide: A single center study. 3103 86

BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. The subsequent characteristic clinical features of dyspnea and hypoxia are a manifestation of these microliths. There have been fewer than 1000 cases of pulmonary alveolar microlithiasis reported worldwide, and there have been 19 reported lung-transplanted patients. CASE REPORT A 49-year-old Saudi male patient presented with longstanding history of easy fatigability and tiredness on exertion since he was 16 years old. Throughout his follow-up in different hospitals (1986-1989), tuberculosis and pulmonary fibrosis were suspected. The patient was lost to follow-up between 1989 and 2001. In 2002, he presented to the emergency room with coughing, shortness of breath on exertion, abdominal swelling, and pedal edema. An investigation with chest x-rays, CT scan, electrocardiogram, and an echocardiogram was conducted. After referral to a tertiary care center, the patient was diagnosed with pulmonary alveolar microlithiasis. He subsequently developed pulmonary hypertension and polycythemia and therefore received a bilateral lung transplant in 2016. Following the lung transplant, he developed a mild reperfusion injury and tonic-clonic seizures, requiring ICU admission. After a successful extubatation with stable vitals and good recovery, he was discharged home in stable condition with planned follow-up. CONCLUSIONS We report a case of pulmonary alveolar microlithiasis successfully treated with a bilateral lung transplant. Although pulmonary alveolar microlithiasis is a rare entity, healthcare providers should consider it in the differential diagnoses of parenchymal lung diseases and differentiate it from tuberculosis and pulmonary fibrosis.
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PMID:Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review. 3135 64