Syed Ali Wajid, Nasir Saeed, Naila Ali.
Juvenile Cystinosis - a case report.
J Postgrad Med Inst Jan ;18(1):124-6.

An 8-year old girl presented with complaints of photophobia and lacrimation of 1-month duration. On examination the visual acuity was 6/6 in each eyes, the intraocular pressure was within normal range, conjunctiva and cornea showed deposition of fine needle like crystalline deposits, involving palpebral, forniceal and bulbar conjunctiva and anterior 2/3rd of corneal stroma involving the peripheral more than central cornea. The posterior segment examination did not show any signs of crystal deposition. Differential diagnosis included were: 1. Cystinosis 2. Hypergammagloubulinaemia 3. Lecithin cholestrol acyl transferase deficiency 4. Anterior stromal crystalline dystrophies a. Central crystalline dystrophy b. Porphyria cutaneatarda c. Marginal crystalline dystrophy 5. Urate keratopathy General physical examination revealed that the child had coarse hair with cold skin and is less active than her siblings. The investigations performed were: Urinalysis: Proteinuria: 1 gm/24 hrs, pus cells, RBCs, casts of WBCs, casts of hyaline and decreased level of phosphorus. Haematology: Alkaline phophatase: 233 u/L (Normal range: 117 u/L) Thyroid function tests: Increased TSH (3.98ul) Abdominal Ultrasonography: Normal The diagnosis of Juvenile cystinosis was made clinically supported by multiple structural involvements. It is very unfortunate to report that patient`s parents did not make the follow up visits and change of residence led to failure of further possible contact with patient and her family.

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