5 research outputs found
Audiologic evaluations of children with mucopolysaccharidosis
ABSTRACT INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients. OBJECTIVE: The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss. METHODS: After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds. RESULTS: The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case. CONCLUSION: Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important
Transient Bone Marrow Edema Syndrome (Case Report)
Transient bone marrow edema syndrome (BMES) is accepted as a possible cause of acute disabling hip pain. This syndrome is defined as local osteoporosis in hip in radiographies, BME in MRI which can be rarely seen and has a self-limiting course. Although the disease generally has a self-limiting course, surgical treatment by early core decompression of the femoral head has proven effective in rapidly relieving the symptoms.
Although BMES is relatively rare and probably underdiagnosed when compared to nontraumatic osteonecrosis, both conditions are associated with known osteonecrosis risk factors in middle aged men and especially with late (thirdhad trimester) pregnancy in women.
We have reported three cases with BMES that had different etiology and followed up presented the differential diagnosis to nontraumatic avascular osteonecrosis. These three cases were treated in early stage very succesfully
Audiologic evaluations of children with mucopolysaccharidosis
Introduction: Mucopolysaccharidosis is a hereditary lysosomal storage
disease, which develops due to a deficiency in the enzymes that play a
role in the metabolism of glycosaminoglycans (GAG). The incidence of
mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance
(except for MPS II). Mucopolysaccharidosis occurs in seven different
types, each with a different congenital deficiency of lysosomal enzymes.
In mucopolysaccharidosis patients, even though progression of clinical
findings is not prominent, the disease advances and causes death at
early ages. Facial dysmorphism, growth retardation, mental retardation,
and skeletal or joint dysplasia are the most frequently found symptoms
in these patients.
Objective: The purpose of our study is to present the types of hearing
loss types and tympanometric findings of patients with
mucopolysaccharidosis referred to our clinic with suspicion of hearing
loss.
Methods: After otorhinolaryngological examination, 9 patients with
different types of mucopolysaccharidosis, underwent to immittance and
audiometric evaluations, performed according to their physical and
mental abilities, and ages, in order to determine their hearing
thresholds.
Results: The audiometric findings of the 9 patients followed with
mucopolysaccharidosis were reported separately for each case.
Conclusion: Based on the high frequency of hearing loss in
mucopolysaccharidosis patients, early and detailed audiological
evaluations are highly desirable. Therefore, regular and systematic
multidisciplinary evaluations are very important. (C) 2015 Associacao
Brasileira de Otorrinolaringologia e Cirurgia Cervico-Facial. Published
by Elsevier Editora Ltda