Ramona Mihaela Stoicescu

Atypical onset of diabetes in a teenage girl: a case report.

BackgroundChorea, hemichorea-hemiballismus and severe partial seizures may be the presenting feature of nonketotic hyperglycemia in older adults with type 2 diabetes, but cases in children with type 1 diabetes are rare, since the most easily recognized symptoms of type 1 diabetes in children are secondary to hyperglycemia, glycosuria, and ketoacidosis.Case presentationA previously healthy 15-year-old girl presents with sudden onset of right-sided chorea. Brain CT did not detect any abnormal density areas. A T1-weighted image of brain MRI was normal. Investigations revealed hyperglycemia with absent ketones and normal serum osmolality. Achievement of normoglycemia with insulin therapy determined the involuntary movements to regress completely within a day. The direct effect of hyperglycemia could be the pathogenesis of the chorea in our patient. Severe hyperglycemia without ketosis at the clinical onset of insulin-dependent diabetes mellitus (type 1) has been reported in children and adolescents, but nonketotic hyperglycemia is an unusual cause of chorea-ballismus in children, and chorea-ballismus is also a rare manifestation of primary diabetes mellitus.ConclusionThe importance of clinical evaluation, laboratory testing and neuroimaging for the differential diagnostics of chorea is emphasized.

De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

IntroductionKearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina.Case presentationWe report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes mellitus, hypoparathyroidism and hyperaldosteronism. The patients evolution showed progressive insufficiency of the renal tubule: hyperphosphaturia, hyperaminoaciduria and, later, glucosuria (de Toni-Debré-Fanconi syndrome), a syndrome, to date, rarely diagnosed in association with complete Kearns-Sayre syndrome. The final diagnosis was delayed for several years and was only established when he developed diabetes mellitus. Southern blot analysis and polymerase chain reaction amplification revealed the presence of a deletion in the mitochondrial DNA.ConclusionDespite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad: external ophthalmoplegia, pigmentary retinopathy and onset in a patient younger than 20 years old. In our opinion, a search for Kearns-Sayre syndrome in all patients with de Toni-Debré-Fanconi syndrome is a valuable medical routine.