PURPOSE: The mucopolysaccharidoses (MPSs) are a heterogeneous group of lysosomal storage disorders. They are caused by a deficiency of the enzymes involved in the degradation of glycosaminoglycans. Early recognition is important because recombinant enzyme replacement therapy is now available for MPS. We studied the clinical characteristics of 80 MPS children with the object of determining the epidemiological, clinical and radiological features in Korean MPS children. METHODS: Diagnosis of MPS was confirmed by skin fibroblast enzyme analysis in 80 patients between February 1995 and December 2004. Charts were retrospectively reviewed for clinical and radiological findings, as well as for intelligence and speech evaluations. RESULTS: Hunter syndrome (MPS type II) was the most prevalent type, appearing in 51/80 cases (64 %), followed by Sanfilippo syndrome (MPS III-18%), Hurler syndrome (MPS I-15%), and Morquio syndrome (MPS IV-4%). The average age at diagnosis was 5.5 years (range 1 to 20), and the male-to-female ratio was 4.7: 1. Typical radiographic changes were observed in 45/54 cases (83%). Mitral regurgitation was the most common cardiac defect. Moderate to profound mental retardation and hearing loss were present in 14/35 cases (56%) and 33/38 cases (82%), respectively. Four MPS II patients had bone marrow transplantation, with mixed outcomes. Five MPS I patients are currently on enzyme replacement therapy. CONCLUSION: Our study showed a high proportion of MPS II cases (64%), which may represent population variability. By studying the clinical features of these patients, we hope to alert pediatricians of the warning signs of MPS.
Bone Marrow Transplantation ; Child ; Diagnosis ; Enzyme Replacement Therapy ; Fibroblasts ; Glycosaminoglycans ; Hearing Loss ; Hope ; Humans ; Incidence ; Intellectual Disability ; Intelligence ; Korea ; Mitral Valve Insufficiency ; Mucopolysaccharidoses* ; Mucopolysaccharidosis I ; Mucopolysaccharidosis II ; Mucopolysaccharidosis III ; Mucopolysaccharidosis IV ; Retrospective Studies ; Skin

Consensus ; Humans ; Mucopolysaccharidoses/therapy* ; Mucopolysaccharidosis IV ; Mucopolysaccharidosis VI

No Abstract Available.
Mucinoses*

No abstract available.
Mucinoses*

No abstract available.
Mucinoses

Morquio syndrome is a subtype of mucopolysaccharidoses, wherein the accumulation of glycosaminoglycans (GAGs) in various organ systems lead to alteration of anatomy and physiology. Most prominent features are extensive bony abnormalities, which normally require surgical correction. This paper reports the case of a 7-year-old child with Morquio syndrome who successfully underwent correction of genu valgum under general endotracheal anesthesia via asleep induction and videolaryngoscopy, with supplemental peripheral nerve block. The precautions and anesthetic care done to ensure a safe procedure are discussed, especially with anticipation of a possible difficult airway.
Mucopolysaccharidosis IV ; Mucopolysaccharidoses ; Anesthesia

No abstract available.
Breast* ; Mucinoses*

No abstract available.
Humans ; Mucinoses

Cutaneous focal mucinosis is a rare disease which usually manifests itself as a single asymptomatic papule or nodule, but vesicular presentati:on has only rarely been reported. This condition is one of many mucinoses, including localized lichen myxedematosus, acral persistent papular mucinosis, alopecia mucinosa, follieular mucinosis, and myxoid cysts which present with localized cutaneous lesions. We report a rare vesicular form of cutaneous focal mucinosis in a 42-year-old caucasian male who showed a slowly growing, 0.5 cm-sized, asymptomatic vesicle of one-week duration on his right knee. A histopathological examination revealed a localized accumulation of amorphous basophilic material which was positive on colloidal iron staining at pH 2.5. However, it was negative at pH 0.4 in an alcian blue stain, and negative on colloidal iron staining after treatment with hyaluronidase. The amorphous material was judged to be hyaluronic acid from the results of the above special stains. Proliferation of fibroblasts was also observed. Electron microscopy showed well-develuped endoplasmic reticulum and secretory vesicles in the fibroblasts. The lesion could not be completely removed even after two succesive wide excisions.
Adult ; Alcian Blue ; Basophils ; Colloids ; Coloring Agents ; Endoplasmic Reticulum ; Fibroblasts ; Ganglion Cysts ; Humans ; Hyaluronic Acid ; Hyaluronoglucosaminidase ; Hydrogen-Ion Concentration ; Iron ; Knee ; Male ; Microscopy, Electron ; Mucinoses* ; Mucinosis, Follicular ; Rare Diseases ; Scleromyxedema ; Secretory Vesicles

Folliculosebaceous cystic hamartoma(FCH) is a rare tumor of characteristic clinical and histological features. Histological findings are intradermal cystic structures lined by infundibular epithelium, numerous sebaceous lobules radiating from cystic structures and surrounding stroma composed of mesenchymal changes including variable proportions of fibrous, adipose, vascular and neural tissues. We describe a case of FCH associated with perifollicular mucinosis, which is unusual finding.
Epithelium ; Hamartoma* ; Mucinoses