Concluded Case

A 9-year-old girl was admitted to our department with polyuria, polydipsia and weight loss of approximately 1 kg. Laboratory tests did not reveal features of ketoacidosis. Insulin-dependent diabetes mellitus with negative immune markers was diagnosed. In addition, failure to thrive with BMI 13 kg/m2 (Z-Score –2,47), ptosis, eye movement impairment, diplopia, decreased muscle tone, poorly expressed deep tendon reflexes and cognitive disorders were found. A few months before the diabetes onset, she started complaining of chronic headaches with visual disturbances, ocular palsy, photophobia and phonophobia without vomiting or nausea. Normal growth and psychomotor development were observed until the age of 3. From the age of 4, asymmetrical ptosis was revealed. In prospective observations, the patient presented symptoms of severe headaches, motor coordination disabilities, periodical vision disturbances and tremors of the head and limbs exacerbated over time. Seizure-like episodes were reported. At the age of 10, brain MRI showed abnormalities characteristic of spongiform group of mitochondrial diseases. An abnormal EEG sleep study was found and treatment with lamotrigine was introduced. Given the clinical and radiological findings supporting the suspicion of KSS, genetic testing was performed confirming the diagnosis. A blood mitochondrial DNA study identified deletion, which according to the literature is responsible for about 90% of cases of KSS.At the age of 13, she was admitted in critical condition due to stroke-like episode. Observed symptoms were: sudden confusion, severe headache and weakness in left arm and the face on left side and abnormal breathing pattern. Laboratory tests showed elevated lactate level and electrolyte disturbances. A few months later, she had lost consciousness with associated hypocalcemia. Diagnosis of primary hypoparathyroidism was established and treatment with calcium supplementation was introduced. At the age of 14.5, patient developed Fanconi syndrome with nephrocalcinosis and retinal dystrophy with progressive vision impairment was diagnosed. presents photos our patient at the age of 13.

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please suggest some other treatment procedures

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please suggest some other treatment procedures

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