ECE2024 Eposter Presentations Reproductive and Developmental Endocrinology (78 abstracts)
Bardet-Biedl syndrome with hypokalaemia paralysis: case report
Hemmet El Haddad 1 , Manal Abou Farha 2 , Ihab Sameh 2 , Ahmed Fayed 2 , Asma Ezzat 1 , Randa Salam 1 , Alaa Abdalla 2 , Sara Ihab 2 , Haader Essam 2 & Rodina Khaled 2
1Cairo University, Internal medicine, endocrinology, Cairo, Egypt; 2Cairo University, Internal medicine, Cairo, Egypt
Introduction: Bardet–Biedl syndrome is a rare autosomal recessive disorder with a wide range of clinical features. The primary clinical features include rod-cone dystrophy, postaxial polydactyly, central obesity, cognitive impairment, male hypogonadism and renal dysfunction.
Case report: 22 Year old male, mentaly retarded with Bardet Biedle syndrome presented to our ER with vomiting and generalized weakness for 1 week. There was no history of fever, trauma, sensory disturbances, urinary or stool incontinence, no cranial nerve dysfunction. History of orchiopexy for RT sided undesended testes at the age of 5 years, cataract surgery on left eye at the age of 15 His sister is a known case of bardet biedel syndrome. Physical examination: BP: 110/80., normal temperature and respiratory rate. Weight: 75 kg, Height: 160 cm, BMI: 29 kg/m2, central obesity, Cataract on Rt eye, Squint, High arched palate, Oral monaliasis Polydactyly in both lower limb and left upper limb, Brachydactyly in both feet. Cardiac and chest examination were normal Fundus examination showed the features of retinitis pigmentosa neurological examination: incomprehensive speech, bilateral Lower and upper limb hypotonia, and hyporeflexia, power, Sensory Coordination and gait: could not be examined Tanner stage 3: Left testis 4 cm, Rt testis 3 cm, Penile length 5 cm, Hypospadias Investigations Normal complete blood picture, urea, creatinine, blood gases Normal bilirubin, albumin, ALT: 27 (16-63 U/l), AST:56 (0-50 U/l) ALP: 240 (35-104 U/l) A1c: 5.8%, Na:140 (136-145 mmol/l), k: 2.3 (3.5-5.1 mmol/l), ca:6.3 (8.6-10.2 mg/dl) phosphrous: 1.6 (2.5-4.5 mg/dl), mg:1.1 (1.7-2.5 mg/dl) PTH:411 (15-65 pg/ml), Vitamin D: <3 (20-40 ng/ml) Normal lipid profile, normal thyroid function Abdominal ultrasonography showed: calcular cholecystitis Lt kidney marked back pressure dilated pelvis with upper 1/3 of the ureter (hydronephrosis), rt 112x 48 lt 102x45mm Tone and power of patient improved after correction of k, mg, ca, ph and vitamin d replacement.
Conclusion: Bardet–Biedl syndrome is worthy of special diagnostic effort for starting timely treatment of the various components and associated complications of the syndrome.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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