Rapid postnatal growth and slow involution in childhood characterize the common infantile hemangioma. There are other rare vascular tumors that present fully grown at birth and behave quite differently, as designated by the acronyms: rapidly involuting congenital hemangioma (RICH) and noninvoluting congenital hemangioma (NICH). RICH and NICH have similarities in appearance, location, size, equa...

Sixteen patients with large angle infantile esotropia with deviations of 80-90 prism dioptres were operated at the age of about 2 years. All patients underwent 8 mm bilateral medial rectus recessions. At the last follow up examination, 6 to 48 months postoperatively (average 16.3 months), successful horizontal alignment was achieved in 12 patients (75%). Four patients (25%) were undercorrected....

Hepatic hemangioendothelioma is rare. We report on hepatic hemangioendotheliomas in 2 young infants, with initial manifestations of respiratory distress and congestive heart failure. Serum alpha-fetoprotein (alphaFP) level was as high as 26,343 microg/l at 14 days old in 1 case, but was only 18 microg/l in the other case. The 2 patients were treated with prednisolone and hepatic artery ligation...

Breath-holding spells are episodes of brief, involuntary cessations of breathing that occur in children in response to stimuli such as fear or injury. They are usually benign, and although very rarely, breath-holding spells accompany deteriorative neurological diseases. Here, we present two patients having infantile neuroaxonal dystrophy and breath-holding spells. Presence of the common respira...

Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English l...

BACKGROUND Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this paper, we assess the cost-effectiveness of enzyme replacement therapy in infantile Pompe disease. METHODS A ...

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 ...

INTRODUCTION West Syndrome (WS) (infantile myoclonic encephalopathy with hypsarrhythmia--IMEH) belongs to the infantile epileptic encephalopathies and is characterized by infantile spasms, hypsarrythmia in EEG, and abnormal psychomotor development of children. AIM Evaluation of the EEG patterns of patients with WS, correlation of the EEG patterns with the cause of epilepsy and an assessment o...

Background: Spinocerebellar ataxia type 7 (SCA7) is a rare subtype of SCA in the Chinese population. To the best of our knowledge, no Chinese infantile-onset cases confi rmed by molecular analysis have been reported. Methods: Clinical and molecular analyses were performed in a Chinese family with several members clinically diagnosed with SCA7. Results: After molecular analysis of ATXN7, the fat...

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, ...