RESUMO
@#Retinoblastoma very rarely presents as vitreous haemorrhage. We are presenting a case of atypical presentation of retinoblastoma in a 3-year-old girl. She initially came with right eye vitreous haemorrhage of unknown cause. B-mode ultrasound showed dense vitreous opacity without evidence of mass. Initial MRI Brain/Orbit was inconclusive. Diagnostic vitrectomy was performed and noted thickened abnormal retina which was suspicious for retinoblastoma. The parents refused for enucleation for diagnostic histopathological examination and opted for conservative management. Repeated MRI Brain/Orbit done six months later showed disease progression through optic nerve involvement and suggestive of retinoblastoma. The parents were re-counselled for enucleation however refused and defaulted. 2 months later, the child was brought back with proptosed and disorganized eye. This time, they agreed for intervention. The patient underwent three cycles of chemoreduction therapy before enucleation. After enucleation, she received six cycles of adjuvant chemotherapy. She was well with no disease recurrence at two-year post treatment.
RESUMO
Nondeletional α-globin mutations are known to cause more serious clinical effects than deletional ones. A rare IVS-I-1 (G>A) (HBA2: c.95+1G>A) donor splice site mutation interferes with normal splicing of pre mRNA and results in activation of a cryptic splice site as well as a frameshift mutation. Hb Adana [HBA2: c.179G>A (or HBA1)] is a highly unstable variant hemoglobin (Hb) resulting from a mutation at codon 59 on the HBA2 or HBA1 gene, recognized to cause severe α-thalassemia (α-thal) syndromes. We report a unique case of compound heterozygosity for these two mutations in a 9-year-old boy who presented with a Hb level of 5.3 g/dL and hepatomegaly at the age of 15 months. He required regular blood transfusions in view of a Hb level of <7.0 g/dL and failure to thrive. He had thalassemic red cell indices and peripheral blood film. The Hb electrophoresis only showed a raised Hb F level (3.3%) and a pre run peak but the Hb H inclusion test was negative. His father had thalassemic red cell indices but a normal Hb level. His mother had almost normal Hb levels and red cell indices. Hb Adana involving the HBA2 gene was detected by mutiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) in the proband and his father. DNA sequencing of the HBA2 gene confirmed the IVS-I-1 mutation in the proband and his mother. This case highlighted the unique interaction of the IVS-I-1 mutation with Hb Adana in a young Malay boy presenting with transfusion-dependent α-thal.