Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 18-year-old student presented with a two-year history of daytime sleepiness and noisy breathing during sleep. Both he and his brother, aged 25 years, had Scheie's syndrome, a mucopolysaccharidosis characterised by small stature, micrognathia, corneal clouding, hepatosplenomegaly, raised urinary mucopolysaccharides, and undetectable levels of alpha-L-iduronidase assayed in cultured fibroblasts. Both brothers had sleep apnoea (apnoea index, 59 and 35 respectively) during which there was a significant fall in heart rate and arterial oxygen saturation. One brother had EEG changes suggestive of cerebral hypoxia and the other had ventricular extrasystoles at the end of several episodes. Tracheostomy in the younger brother produced a dramatic symptomatic improvement and reduced the number and severity of apnoeic episodes (post-tracheostomy apnoea index 2.4).
Thorax 1980 Feb
PMID:Sleep apnoea in Scheie's syndrome. 676 75

A case of aspergillus tracheobronchitis following influenza A infection in an immunocompetent 35 year old woman is described that required prolonged mechanical ventilation for airways obstruction. Treatment included liposomal amphotericin, inhaled amphotericin, gamma interferon and GM-CSF. Liposomal amphotericin therapy was associated with reversible hepatosplenomegaly. Inhaled corticosteroids with continued antifungal therapy were used for the management of severe recurrent airway obstruction. After a prolonged course of treatment she survived with fixed airways obstruction unresponsive to corticosteroids.
Thorax 1999 Nov
PMID:Successful treatment of post-influenza pseudomembranous necrotising bronchial aspergillosis with liposomal amphotericin, inhaled amphotericin B, gamma interferon and GM-CSF. 1052 67

An eight-year-old boy was admitted with a three-week history of painless masses on the left upper eyelid, in front of the left ear and on the left side of his jaw. On examination, there was a 3x2 cm tumor on the left upper eyelid, and lymphadenopathies in front of the tragus and in the left submandibular area were observed in the absence of hepatosplenomegaly. Complete blood count, peripheral smear and bone marrow aspiration were normal. After the left submandibular lymphadenopathy was removed, he was diagnosed with Burkitt's lymphoma by pathological examinations. Thorax and abdomen computed tomography showed pulmonary and renal involvement. On the seventh day of treatment, eyelid involvement disappeared. After induction therapy, no renal or pulmonary lesions were observed. An unusual clinical presentation of Burkitt's lymphoma with eyelid and pulmonary involvement is reported.
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PMID:A Burkitt's lymphoma case with eyelid, renal and pulmonary involvement. 1684 25