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)

We report the case of a 22-year-old woman who presented with acute onset flaccid quadriparesis. Physical examination showed mild pallor with cervical and axillary lymphadenopathy, hepatomegaly, and bilateral smooth enlarged kidneys. Neurological examination revealed lower motor neuron muscle weakness in all the four limbs with hyporeflexia and normal sensory examination. Laboratory investigations showed anemia, severe hypokalemia, and metabolic acidosis. Urinalysis showed a specific gravity of 1.010, pH of 7.0, with a positive urine anion gap. Ultrasound revealed hepatosplenomegaly with bilateral enlarged smooth kidneys. Renal biopsy was consistent with the diagnosis of non-Hodgkin lymphoma (B cell type). Metabolic acidosis, alkaline urine, and severe hypokalemia due to excessive urinary loss in our patient were suggestive of distal renal tubular acidosis. Renal involvement in lymphoma is usually subclinical and clinically overt renal disease is rare. Diffuse lymphomatous infiltration of the kidneys may cause tubular dysfunction and present with hypokalemic paralysis.
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PMID:Diffuse lymphomatous infiltration of kidney presenting as renal tubular acidosis and hypokalemic paralysis: case report. 1807 21

A 3-year-old boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Examination showed silvery-gray hair (figure 1A), bilateral papilledema, spastic quadriparesis, brisk muscle-stretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina. Hair microscopy confirmed Griscelli syndrome (GS) (figure 1, B-D). MRI brain was suggestive (figure 2, A-D). CSF showed 20 degenerated leukocytes. He died of an intercurrent illness 2 months later.
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PMID:Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. 2471 39