BACKGROUND Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life-threatening organ dysfunction. Infantile cystinosis typically leads to end-stage renal disease, necessitating renal replacement therapy. Liver disease in cystinosis is rare and is mostly reported as nodular regenerative hyperplasia leading to portal ...

BACKGROUND Alexander disease (AD) is a sporadic leukodystrophy that predominantly affects infants and children and usually results in death within ten years after onset. The infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor retardation with loss of developmental milestones, megalencephaly and frontal bos...

BACKGROUND The study was intended to analyse the independent effect of some facets of the socio-economic status of both parents on perinatal, neonatal and post-neonatal mortality in the northern region of Belgium (the Flanders). METHOD Perinatal data collected by the Study Centre for Perinatal Epidemiology were linked with socio-economic data collected by the district council. Mothers aged > ...

Development of infantile hypertrophic pyloric stenosis during postoperative period in EA with TEF is rare. Postoperative vomiting or feeding intolerance in EA is more common which is due to esophageal stricture, gastroesophageal reflux and esophageal dysmotility. A typical case of IHPS also presents with non-bilious projectile vomiting at around 3-4 weeks of life. The diagnosis of infantile hyp...

Infantile colic is a common condition affecting 10% to 30% of infants in the first 3 months of life. Infantile colic can be quite distressing to the parents. The condition cannot be clearly defined because of its variability. Nevertheless, the definition given by Wessel (1954) is still widely accepted. It is based on the rule of three: crying for more than three hours per day, for more than thr...

introduction biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. we report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. with a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. rapid treatment was life-savin...

BACKGROUND Infantile hemangioma is the most common tumor of infancy. The majority of cases are managed conservatively, but intervention is necessary in approximately 10 percent of cases because of the threat to life or function or because of tissue distortion or destruction. The mainstay treatment for these problematic proliferating infantile hemangiomas is pharmacologic therapy, mostly discove...

introduction: infantile colic is one of the most common problems in the family in few weeks after birth. pathophysiology of colic has not been explained yet. the aim of this study was to compare the intestinal microflora in colicky and non-colicky infants. materials and methods: seventy breastfed infant aged 15-60 days were enrolled in this study and divided into two groups of 35 colicky and no...

The prenatal and infantile neuropathies are an uncommon and complex group of conditions, most of which are genetic. Despite advances in diagnostic techniques, approximately half of children presenting in infancy remain without a specific diagnosis. This review focuses on inherited demyelinating neuropathies presenting in the first year of life. We clarify the nomenclature used in these disorder...

To the Editors: I read with interest the article, “Analysis of Risk Factors for Consecutive Exotropia and Review of the Literature” by Yurdakul and Ugurlu.1 The authors are to be congratulated in documenting their findings of increased risk factors for the development of consecutive exotropia such as anisometropia, amblyopia, and postoperative adduction defects. The authors reported that “no at...