EPOS

European Paediatric Ophthalmological Society

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36 Familial Heterozygous Hypobetalipoproteinaemia (FHH) and Christchurch Heamoglobinopathy (CH) in an 8 month old

Connell, P.
Children's Hospital Temple Street, Dublin Ireland

Introduction

FHH is a rare condition and is usually asymptomatic in heterozygotes. We report the case of newly diagnosed hypobetalipoproteinaemia in an 8-month old, with a family history of FHH and CH, presenting with lethargy,pyrexia and developmental delay(DD), being treated with dietary restriction and large doses of vitamins A and E. This rare disease is one of the causes of DD in childhood and its early treatment probably prevents irreversible retinal and nervous system lesions in later life.

Case Report (Summary)

Baby JM was admitted to Galway Regional Hospital with a 2 day history of lethargy, pyrexia and noted DD. He was clinically septicaemic on presentation. The septic screen and lumbar puncture were negative. Full blood count revealed a low haemoglobin(5.8).He was noted to be profoundly hypotonic with severe gross motor delay. The blood film showed marked acanthocytosis with basophilic stippling. Of note in family history, mother suffered with CH, diagnosed during her pregnancy at 3 months gestation, and FHH diagnosed at age 18 when presenting to an ophthalmologist with nyctalopia.Levels of vitamins A and E were obtained showing markedly low levels and he was commenced on vitamin supplements.

JM underwent a repeat metabolic workup and radiological investigations in TSH (Table 1- not included). Vitamin levels normalised post 1 week on supplements.Repeat blood film(Fig 1) showed acanthocytosis and he was diagnosed with CH.

Ophthalomology assessment in our unit revealed bilateral acuities of 6/36 with Cardiff acuity cards. Vision was central, steady and maintained and he fixed and followed well. Pupillary examination was unremarkable.

Refraction showed significant myopia and fundal examination revealed bilateral florid pigmentary retinopathy (photographed with retinal camera)(Fig 3). VER showed a prolonged latency with p100 at 156ms. Flash ERG was normal. (Fig 4 ) Baby JM was discharged well 2 weeks post admission and is undergoing out patient follow up.

Discussion

FHH is a rare condition of altered lipoprotein metabolism and is usually asymptomatic in heterozygotes.CH is a disorder of the beta chain of haemoglobin causing fragility and heamolysis which is especially sensitive to pyrexia, immunisations and intercurrent infections. We present a case of newly diagnosed hypolipoproteinaemia, and CH in an 8 month old with a positive family history with symptomatic disease of both these rare conditions presenting with pyrexia, DD and lethargy. Vitamin supplementation normalised low levels of fat soluble vitamins within a week. Normal ERG and prolonged VER were obtained. Normalising Vitamin levels may prevent the irrerversible retinal and central nervous system lesions associated with these disease.