AIM To evaluate kyphoscoliosis patients with chronic hypercapnic respiratory failure (CHRF) using the six minute walk test (6MWT) distance (6MWD) and cardio-pulmonary function tests. METHOD This prospective cross-sectional study was carried out in a tertiary training and research hospital in Turkey. Kyphoscoliosis patients with CHRF on home mechanical ventilation (HMV) followed in a respirato...

Intrathoracic meningoceles associated with neurofibromatosis type I are rare, and the optimal treatment is still unknown. Herein, we present the case of a 48-year-old Asian female with a huge thoracic meningocele associated with cutaneous neurofibromatosis type I and kyphoscoliosis of the thoracic spine. The large thoracic meningocele was successfully treated through thoracoscopic plication.

Thoracic manifestations of Neurofibromatosis include intrathoracic posterior mediastinal tumours, meningocoeles, kyphoscoliosis and interstitial fibrosis. Even though mediastinal neurofibromas are common, intrapulmonary neurofibromas are very rare. In this paper, we present a case of intrathoracic neurofibroma with intrabronchial extension. Lesions extending into the bronchial lumen making bron...

Vertebral involvement is no longer a contraindication for resection of superior sulcus tumors. We describe a patient who developed a kyphoscoliosis with spinal cord compression after resection of a superior sulcus tumor that invaded the vertebral column. Risk factors for spinal instability and indications for stabilization are discussed.

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndr...

In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.

Limb body wall complex (LBWC) is a rare clinicopathological entity, characterized by the presence of an abdominal wall defect associated with variable spectrum of limb and visceral anomalies. A stillborn baby of LBWC with placentoabdominal phenotype is reported here. Kyphoscoliosis, sacrococcygeal mass and agenesis of external genitalia are the associated features.

A 27-year-old man with severe infantile kyphoscoliosis suffered from recurrent respiratory tract infections during childhood and early adult life. He deteriorated and was found to have pernicious anaemia and common variable immunodeficiency with hypogammaglobulinaemia and impairment of cell-mediated immunity. Marked clinical improvement has followed the institution of effective gamma-globulin r...

BACKGROUND Acquiring 6-min walk test (6MWT) data from patients undergoing noninvasive mechanical ventilation due to chronic hypercapnic respiratory failure is limited. We aimed to assess whether the actual 6-min walk distance (6MWD) or the percent predicted 6MWD is a better reflection of the respiratory function of patients using home noninvasive ventilation (NIV) due to chronic hypercapnic res...