IDIOPATHIC HYPHOPHOSPHATEMIA IN 3 YEARS-OLD GIRL A CASE REPORT
Bina Akura,Tika Hudono
Fatmawati hospital Pediatric resident FKUI
Background : Hypophosphatemia can manifest as various symptoms involving multiple organ systems like central nervous system, cardiopulmonary system, skeletal and smooth muscle. Oftentimes, diagnosing the underlying cause for hypophosphatemia can be of challenge if the symptoms are not specific.
Case Presentation Summary : A 3-year old girl was referred to a pediatric endocrinologist presenting with increasing bowing of left leg suspected of Ricketts disease since 1 year prior to hospital admission. There were no history trauma or previous operation. She was able to walk properly and showed no pain while walking. Other than bowing of the legs her other physical examination was within normal limits. Laboratory workup revealed normal level of vitamin D 25-OH 45.8 ng/mL (30-100 ng/mL), increased LDH 382 u/L (140-300), hypophosphatemia 1.6 mg/dL (2.4-5.1), low level of 24-hour urine calcium 5.25 mg/24 hours (100-300), low level of urine sodium 33.7 mg/24 hours (41-115), low level of urine potassium 13.6 mg/24 hours (17-54) and increased level of parathyroid hormone 59.67 pg/mL. Other laboratory results including complete blood count and kidney function were all within normal limits. Bone survey examination revealed bowing appearance of bilateral tibia and ulna, left genu valgus, signs of pathological fracture of the left ischium, deformity on the proximal diaphysis of the left femur and left tibia with signs of osteopenia. To rule out primary hyperparathyroidism an ultrasound of the neck was done. The patient was treated with calcium supplementation and planned for elective reconstruction surgery to correct the left genu valgus.
Learning Points/Discussion : Idiopathic Hyphophosphatemia is a rare case in children. Early detection and prompt treatment sometimes can be difficult. This is case demonstration of idiopathic hyphosphatemia. Diagnostic workup include parathyroid hormone level, vitamin D level, calcium, phosphate level. Proper treatment is needed for long term prognosis.
Keywords: idiopathic hypophospatemia case report
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