ABSTRACT
We recently reported two siblings, a sister and a brother, with intrauterine growth retardation, microcephaly, short stature, mental retardation, facial dysmorphism and multiple costovertebral malformations. These features fit most with the diagnosis of cerebrofaciothoracic dysplasia, or Pascual-Castroviejo syndrome. The second sibling, our index patient, presented also with cleft palate and growth hormone (GH) deficiency, suggesting that endocrinological assessment should be performed in short patients with this syndrome, especially if midline defects are present. We present the results of 2 years GH treatment of this first GH deficient patient with cerebrofaciothoracic syndrome and compare the results to those observed in other genetic syndromes with GH deficiency.
Subject(s)
Face/abnormalities , Growth Hormone/therapeutic use , Head/abnormalities , Human Growth Hormone/deficiency , Thorax/abnormalities , Body Weight/physiology , Female , Fetal Growth Retardation/physiopathology , Humans , Infant , Infant, Newborn , Intellectual Disability/complications , Male , Microcephaly/complications , Syndrome , Visual AcuityABSTRACT
Chronic secondary mesenteroaxial gastric volvulus associated with hypertrophic pyloric stenosis has rarely been mentioned in the general medical literature. We report the case of a 2-month-old boy whose clinical symptoms, which included distension of the stomach and projectile vomiting, suggested the diagnosis of hypertrophic pyloric stenosis but who was later diagnosed with chronic secondary mesenteroaxial gastric volvulus. Sonographic examination revealed findings consistent with a rotated stomach, and subsequent plain chest radiography demonstrated a left diaphragmatic eventration. An upper gastrointestinal series radiographic examination with barium contrast enhancement confirmed the diagnosis of mesenteroaxial gastric volvulus. Surgery was performed, and the boy recovered well. A follow-up sonographic examination performed 3 months post-operatively revealed no abnormalities. This case demonstrates that primary or secondary gastric volvulus, although rare in children, should be considered in the differential diagnosis of pediatric patients with a history of vomiting.
Subject(s)
Pyloric Stenosis/diagnostic imaging , Stomach Volvulus/diagnostic imaging , Chronic Disease , Diagnosis, Differential , Humans , Hypertrophy , Infant , Male , Pyloric Stenosis/surgery , Stomach Volvulus/surgery , Treatment Outcome , Ultrasonography , Vomiting/etiologyABSTRACT
Pertussis is a potentially severe disease, especially in infancy. The case of an 8-month-old infant is described who presented the typical radiographic image of unilateral hyperlucent lung or Swyer-James (MacLeod's) syndrome. The infant suffered from pertussis at 20 d of age. A rare postinfectious complication of pertussis is reported.