bronchiectasis/seizures

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Congenital lymphoedema, bronchiectasis and seizure: case report.

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A 10-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new

Piperacillin/tazobactam-induced seizure rapidly reversed by high flux hemodialysis in a patient on peritoneal dialysis.

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Despite popular use of piperacillin, the dire neurotoxicity associated with piperacillin still goes unrecognized, leading to a delay in appropriate management. We report a 57-year-old woman with end-stage renal disease receiving continuous ambulatory peritoneal dialysis (CAPD), who developed slurred

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

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Exome sequencing identified homozygous loss-of-function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early-onset epilepsy,

Convulsion of the lung: an historical analysis of the cause of Dr Johnson's fatal emphysema.

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Of Johnson's fatal emphysema, it appears probable, on available historical and anatomic evidence, that it resulted from bronchiectasis, a diagnosis favoured by the pattern of illness: a protracted and severe respiratory infection succeeded by annual episodes of severe winter bronchitis, remitting in

[Clinical studies of pediatric malabsorption syndromes].

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Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the

Chronic diarrhea and malabsorption due to hypogammaglobulinemia: a report on twelve patients.

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Hypogammaglobulinemic sprue (HGS), which may predispose to infection, is uncommon. Twelve patients (all men; median age 29 years, 15-50) with HGS (4%) of 296 with chronic small bowel diarrhea and malabsorption syndrome (MAS) during a 10-year period were analyzed. Treatment of HGS was delayed due to

Secondary Hypogammaglobulinemia After Rituximab for Neuromyelitis Optica: A Case Report.

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A 17-year-old male with history of neuromyelitis optica and seizures presented to the pulmonology clinic for evaluation of recurrent pneumonias. He had received rituximab for the past 6 years. Over the past 2 years, he experienced four episodes of pneumonia. In between these episodes, he would

Clinical use of the total artificial heart.

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We report here our first experience with the use of a total artificial heart in a human being. The heart was developed at the University of Utah, and the patient was a 61-year-old man with chronic congestive heart failure due to primary cardiomyopathy, who also had chronic obstructive pulmonary

Saudi experience with classic homocystinuria.

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BACKGROUND Classic homocystinuria is an autosomal recessive disorder due to cystathionine ss-synthase deficiency. The clinical, radiological and neurophysiological findings of classic homocystinuria diagnosed at King Faisal Specialist Hospital and Research Centre (KFSH&RC) are presented in this

Not All Strokes Are Strokes An Example of Diagnostic Confirmation Bias.

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A 72-year-old woman presented with a complex partial seizure and right hemiparesis, after a four-week history of cognitive decline, apraxia and speech disturbance. She previously had chronic lymphocytic leukaemia (CLL) and had finished chemotherapy one year prior to presentation. She

Primary care of adults with mental retardation.

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BACKGROUND There is a national trend to deinstitutionalize mentally retarded adults, placing them in community residential settings. As a result, community-based primary care physicians will assume responsibility for their medical care. Primary care physicians may have uncertainties regarding the

Superior vena cava syndrome: still a medical dilemma--a case report.

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OBJECTIVE The purpose of this report is to highlight the dilemma and the associated clinical implications in treating a patient with superior vena cava syndrome (SVCS) with a coexisting coagulophathy. METHODS This case report describes a post-bone marrow transplant patient who was admitted to our

Diagnostic and therapeutic challenges in a critically ill patient in ICU with superior vena cava syndrome--case report.

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OBJECTIVE To highlight the diagnostic and therapeutic challenges associated with the treatment of a patient with superior vena cava syndrome and a coexisting coagulopathy. METHODS This case report describes a bone marrow transplant patient with graft versus host diseases (GVHD) who was admitted to

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