ESPE Abstracts (2018) 89 P-P3-221

aIstanbul Bilim University, Department of Paediatrics, Divison of Paediatric Endocrinology, Istanbul, Turkey; bBezmialem Vakıf University, Department of Medical Genetics, Istanbul, Turkey; cPrivate Paediatric Neurology Clinic, Istanbul, Turkey

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.

Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contact and speech delay. There was no history of consanguinity. The older sister was born after an uncomplicated pregnancy, birth weight was 2700 g and the neonatal period was uneventful. She could sit at 6 months and walk at 18 months of age. She never talked, her constant anxiousness could only be ameliorated by eating. On admission her height was 98.7 cm (−0.01 SDS), weight 24 kg (+3.5 SDS), BMI 24. 64 kg/m2 (+4.21 SDS), had craniofacial dysmorphism (round face, nystagmus, bitemporal flatting), photophobia, truncal obesity and hepatomegaly. There was no evidence of cardiac involvement, hypertension and polydactyly. The younger sister had learning difficulty, blindness and shortness of breath. Birth weight was 3000 g, could sit at 6 months, walk at 16 months of age, she can currently talk 2-3 words. Her height was 98 cm (+2.78 SDS), weight 28 kg (+6.91 SDS), BMI 29.15 kg/m2 (+5.45 SDS). She had round face, short neck, nystagmus, bitemporal flatting, and truncal obesity. Denver developmental screening test demonstrated moderate retardation in older and mild retardation in younger sister. Both sisters had low HDL levels, hypertriglyceridemia, and vitamin D deficiency. The older sister had slightly elevated transaminases, the younger sister had insulin resistance and subclinical hypothyroidism. The ophthalmologic examination was notable for retinal degeneration in both, echocardiography and abdominal ultrasounds were normal. Hearing test could not be applied due to incompatibility. The older sibling had bilateral serous otitis media, the younger sister had acute suppurative otitis media; auditory brain-stem response testing under general anaesthesia was planned after treatment of otitis. Appropriate nutrition was arranged. The genetic analysis revealed homozygous mutation in ALMS1 gene (c.10563_10564del p.(His3521Glnfs*17).

Conclusion: Although Alström syndrome is a rare genetic disease, it should be kept in mind in patients with early onset obesity and speech delay. Awareness of this syndrome may prompt early genetic counseling.

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