Recently a novel case of angiokeratoma corporis diffusum with glycoaminoaciduria was described in a 46-yr-old Japanese woman. Known causes of the cutaneous manifestation were eliminated by enzyme analyses, and further characterization of the accumulated urinary O-linked sialopeptides revealed identity to those excreted by patients with an infantile neuroaxonal dystrophy due to lysosomal alpha-N...

background: choriocarcinoma is a rare highly malignant trophoblastic neoplasm. it can be preceded by any form of gestation including a complete or a partial mole, miscarriage and normal pregnancy. simultaneous intraplacental choriocarcinoma involving both mother and infant is extremely rare. hepatomegaly, anemia, elevated ßhcg is the diagnostic triad. here we report a 6 weeks old afghan girl in...

introduction infantile colic is somehow believed to be the worst pain a baby has thus experienced. it is usually manifested as an acute abdominal pain with intense spasmodic cramping accompanied by intense crying lasting for more than 3 hours a day during at least a three days period. accordingly, this study is aimed to investigate the effects of fumaria on such pain in 3-16 weeks-old infants. ...

To the Editor: As an osteopathic pediatrician who has used osteopathic manipulative treatment for patients with infantile colic, it was a pleasure to read about the research of Hayden and Mullinger1 that was summarized by Michael A. Seffinger, DO,2 in the May installation of “The Somatic Connection.” Hayden and Mullinger1 focused on the use of osteopathic manipulation by osteopaths in the Unite...

BACKGROUND Metachromatic leukodystrophy (MLD) is a rare, genetic neurodegenerative disease. It leads to progressive demyelination resulting in regression of development and early death. With regard to experimental therapies, knowledge of the natural course of the disease is highly important. We aimed to analyse onset and character of first symptoms in MLD and to provide detailed natural course ...

PURPOSE To correlate the findings on MR scans of the brain in patients with tuberous sclerosis complex with mental disability and the type and age at onset of the first seizure. METHODS Patients with tuberous sclerosis complex who had MR brain scans were identified. The diagnosis was confirmed, and the clinical information on each patient was updated. The number, site, and area of abnormal si...

hemangiopericytoma is a rare vascular tumor observed mostly in adults. it usually presents with a painless slowly enlarging mass. the infantile type with much rarer occurrence has a different course compared to adults. very few case reports have been described in the literature with disease onset in the infancy. the first reported case of infantile hemangiopericytoma of limbs from the middle ea...

Desmoplastic infantile ganglioglioma is a rare intracranial tumour of childhood that involves the cerebral cortex and the leptomeninges. We report two patients with desmoplastic infantile gangliogliomas and multiple cerebrospinal metastases. To our knowledge, only two similar cases have been reported in the published literature. Pathologically, this rare intracranial tumour shows glial and gang...

A case of late-infantile Krabbe disease in a patient who presented with developmental regression and spastic quadriplegia in late infancy is reported. Brain magnetic resonance imaging (MRI) at 11 months of age showed predominant corticospinal tract involvement, which usually appears in adult Krabbe disease. Galactocerebrosidase activity in lymphocytes and skin fibroblasts was very low. Genetic ...

BACKGROUND Despite the proven effectiveness of the 595-nm pulsed dye laser (PDL) in treating superficial infantile hemangiomas, many physicians are reluctant to treat such lesions involving the eyelid. OBJECTIVE To examine the safety and efficacy of the 595-nm PDL for the treatment of superficial infantile hemangiomas of the eyelid. MATERIALS & METHODS Records were reviewed for patients with ...