Presentation characteristics were reviewed in 14 children from 12 families with malignant infantile osteopetrosis seen at two large referral centres for bone marrow transplantation. Children from six of these families presented initially with symptoms of hypocalcaemia. These comprised early or late neonatal convulsions in six cases (corrected serum calcium < 1.5 mmol/l), and vomiting and irrita...

Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replac...

Indeed, three children presenting with colitis in the first year of life had such severe, chronic inflammatory bowel disease that subtotal colectomy was eventually required. Indeed, we have emphasised2 that infantile colitis is a heterogeneous syndrome with a variety of causes that can only be identified by means of colonoscopy and multiple mucosal biopsy as well as response to dietary manipula...

Infantile colic is a behavioural syndrome of early childhood that is associated with irritability and crying. It self-resolves, but may lead to significant parental strife. The etiology is unknown; however, several investigators have examined the effect of nutrition on infantile colic. For the majority of infants, nutritional interventions appear to have no benefit on infantile colic. However, ...

Infantile colic is a common disturbance occurring in the first three months of life. It is a benign condition and one of the main causes of pediatric consultation in the early part of life because of its great impact on family life. Some pediatricians are prone to undervalue this issue and there is no consensus concerning management and treatment. In literature are growing evidences about the e...

BACKGROUND Aicardi Syndrome is an X-linked autosomal recessive neurodegenerative encephalopathy. The diagnostic triad is composed by infantile spasms, agenesis of corpus callosum and chorioretinal lacunae. Additional common findings are: microencephaly, spasticity and severe mental delay. It affects only females because of early embryonic lethality in males. A significant number of females with...

Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) have been detected in patients presenting with seizures in the first few months of life and Rett syndrome features. Twenty-seven cases have been detected to date. Generalized intractable seizures, as infantile spasms, and generalized tonic-clonic seizures and myoclonic seizures characterize the clinical picture of CDKL5 mutat...