Beyond Hypothyroidism: Rare Case with unique complications

Date

2024-2

Type

Conference paper

Conference title

Author(s)

ROWIDA MOHAMED FITOURI KHASHEBI

Abstract

Libyan girl presented with delayed diagnosed congenital hypothyroidism and dysmorphic features ,after start L-thyroxin treatment follow-up in clinic, at age 3 years she developed convulsion because hypocalcemia and her examination revealed obesity, short stature and developmental delayed ,Biochemical investigation result going with pseudohypoparathyroidism which confirmed by WES on February 2021, Growth hormone treatment given for 7 months which stopped because she developed massive decrease in visual acuity Brain and Spine MRI diagnosis Chiari malformation type 1.

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