how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12.   pls see pdf.

The role of sodium hyaluronate (Healonid) in trabeculectomy to prevent a shallow or flat anterior chamber and hypotonia in the immediate postoperative period is reported. Twenty-nine eyes of 27 patients were included in a randomised controlled study. Thirteen eyes had trabeculectomy alone, and 16 eyes had trabeculectomy performed with Healonid injected into the anterior chamber. The results sho...

zellweger syndrome (zs) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. herein, a 3-month-old female with zs is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe h...

Objective Hypotonia is a common clinical entity well recognized in pediatric age group, which demands experienced clinical assessment and an extensive array of investigations to establish the underlying disease process. Neuroimaging comes as great help in diagnosing the disease process in rare cases of central hypotonia due to structural malformations of brain and metabolic disorders and should...

Children with the neurofibromatosis type 1 (NF1) inherited tumor predisposition syndrome are at risk for the development of brain tumors. In addition, children with neurofibromatosis type 1 often exhibit low tone (hypotonia). In this study, the authors explored the hypothesis that hypotonia could be a clinical indicator of glioma in children with neurofibromatosis type 1. A total of 56 children...

Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and c...

Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe h...

Background: Hypotonia is a frequent neurological manifestation with numerous etiologies, but recognizing the cause challenge. First, it's necessary to differentiate hypotonia as peripheral, central or mixed. Signs of are normo/hyperreflexia, developmental delay, cognitive delay and/or epileptic seizures associated and normal creatine phosphokinase (CPK). After ruling out environmental risk fact...