Case presentation: LSLLMRG, female, 7 years old, presented with microcephaly and global hypotonia at birth, evolving to spastic tetraparesis. He started difficult-to-control epileptic seizures 3 of age. Skull MRI showed pontocerebellar hypoplasia. Mother a history two previous miscarriages, pregnancy complicated by bleeding. She was born term, Apgar 9/10, difficulty in sucking low weight gain t...

Coarctation of the abdominal aorta constitutes a rare group of vascular abnormalities, including segmental stenoses and extended hypoplasia. Hypertension is the usual solitary clinical finding and contrasts with the diversity of anatomic lesions and surgical techniques used for treatment. It is often difficult to determine whether the lesion is congenital or due to Takayasu's aortitis. Three ca...

INTRODUCTION Isolated left ventricular apical hypoplasia is an unusual type of cardiomyopathy that presents with different clinical manifestations according to the age of the disease, ranging from no symptoms in children to congestive heart failure, pulmonary edema, or even malignant tachycardia in adults. To our knowledge, only a few cases of isolated left ventricular apical hypoplasia have be...

RATIONALE Hypoplasia with an intact posterior arch of the atlas and ossification of the posterior atlantoaxial membrane (PAAM) are individually rare. PATIENT CONCERNS The patient presented with a 6-month history of progressive weakness and paresthesia of his lower extremities. DIAGNOSES Cervical myelopathy resulting from atlas hypoplasia and ossification of the posterior atlantoaxial membra...

We present herein our 20-year experience of pubertal induction in apubertal older (median age 56 years; range 38.4-69.5) men with congenital hypogonadotrophic hypogonadism (n = 7) using a simple fixed-dose and fixed-interval intramuscular testosterone that we originally pioneered in relation to achieving virilisation of natal female transgender men. This regime was effective and well tolerated,...

Meyer's dysplasia strongly mimics Legg-Calve-Perthes' disease despite differing markedly in eventual outcome. This study presents the clinicoradiologi-cal features which differentiate it from Perthes' disease in a group of 178 children with a preliminary diagnosis of Perthes' disease, of whom nine were subsequently diagnosed with Meyer's dysplasia. All had a near normal development of the femor...

OBJECTIVE The cardiac workload associated with various types of aortic obstruction was determined using computational fluid dynamic simulations. METHODS Computed tomography image data were collected from 4 patients with 4 distinct types of aortic arch obstructions and 4 controls. The categorization of arch hypoplasia corresponded to the "A, B, C" nomenclature of arch interruption; a type "D" ...