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A four year old girl presented with proximal muscle weakness, reduced muscle bulk, and perioral tingling and numbness.

She is the first kid of a first cousin consanguinity marriage. Her little brother is two years old with no problem. Her birth history was uneventful and she was breast fed till 1 year of age. Her motor milestones and tooth eruption were delayed. She was always irritable..

Examination showed an agitated, mentally normal girl with prominent short stature (height SDS=-2.8), wasting, pallor, mouth ulcers, positive Trousseau sign, Tredelenburg gait, Bitot spot and itchy cutaneous eruptions on hands and trunk. She weighed 11.7 kg.

A clinical diagnosis was considered.

Microcytic hypochromic anemia, low serum albumin, low serum calcium (7.2 mg/dL), ionized calcium= 0.8 mmol/L, and serum phosphate=2.2 mg/dL, moderately elevated serum alkaline phosphatase, AST, ALT, CPK, PTH, and low serum 25(OH)D= 7 nmol/L were detected. Venous blood gas analysis showed a mild mixed (high anion gap and hyperchloremic) metabolic acidosis. Serum ammonia, lactate, urea, and creatinine levels were within normal ranges for age.

Her hand and wrist radiographs were consistent with retarded bone age and active rickets. Abdominal ultrasonography revealed fatty liver and a small spleen. A previously outpatient -performed motor and sensory nerve conduction velocities (NCVs) and needle electromyography (EMG) showed a mild proximal myopathy.

Failure of serum calcium to normalize even after 48 hours of intravenous calcium suggested an associated magnesium deficiency. Serum magnesium was 0.53 mmol/L and serum calcium reverted to normal after two doses of 0.2 mL/kg of 50% MgSo4 IM.

An intramuscular cholecalciferol 150,000 IU was injected.

The kid was referred for further evaluations.

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