Hoyeraal-Hreidarsson syndrome: magnetic resonance imaging findings.
Hoyeraal-Hreidarsson syndrome (HH) has been defined as a severe variant of dyskeratosis congenita (DKC). We report here a case of a 6-year-old girl with HH who presented with bone marrow hypoplasia, skin pigmentation, nail dystrophy, growth retardation, and bilateral retinal hemorrhage. Brain MRI revealed cerebellar hypoplasia, hypoplasia of the corpus callosum, a small pituitary gland, a small brain stem, and focal long T2 lesions in the thalamus and brain stem. A brain computed tomography scan revealed intracranial calcification as well. To the best of our knowledge, a small pituitary gland and focal long T2 lesions in the thalamus and brain stem have never been reported as a feature of HH.
Kuwashima
Shigeko
S
Department of Radiology, Dokkyo Medical University, 880 Kitakobayashi, Mibumachi, Shimotsuga-gun, Tochigi, 321-0293, Japan. shigeko@dokkyomed.ac.jp
D001853:Bone Marrow / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities*; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009260:Nail Diseases / Q000151:congenital; D010859:Pigmentation Disorders / Q000151:congenital; D012166:Retinal Hemorrhage / Q000151:congenital; D013577:Syndrome; D014057:Tomography, X-Ray Computed