Table 1

Clinical and haematological findings of the patients

PatientSexAge at presentationCurrent age (years)Findings at the time of diagnosisCourse and outcome
GeneralHearingEyesightHaemoglobin (g/dl)PLT (×109/l)
261002M4 m6HSM, MC, FTTIntactUnilateral visual loss6.8126Successful BMT at 1 year
4321M1 m4HSMIntactUnilateral visual loss9.754Successful BMT at 19 months
5151*FHSMBilateral visual loss8.8378Died at 32 months
4367M4 m10MC, unilateral microphthalmiaIntactUnilateral visual loss10.2348V-P shunt for hydrocephaly
4919M1 m18HSM, MC, facial nerve palsyIntactUnilateral visual loss7.4153Successful BMT at 29 months
4913F1 year10Massive HSM, FTTIntactBilateral visual loss6.639Left eye perforation, curved humerus and fractures
4437*F7HSMBilateral visual lossTransfusion dependentFailed BMT at 2 years
4435*F3Successful BMT at 4 months
  • * These patients were not followed at our centre and information on their presentation and course is sparse.

  • BMT, bone marrow transplant; FTT, failure to thrive; HSM, hepatosplenomegaly; MC, macrocephaly; PLT, platelets; V-P, ventriculo-peritoneal.