• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.650-654
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• 2008

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.

• Clinical and Experimental Pediatrics
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• v.49 no.11
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• pp.1158-1166
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• 2006

Purpose : The purpose of this study is to make a diagnostic classification and discuss a diagnostic strategy of floppy infants by investigating clinical, neurological, electrophysiological, and genetic analysis of infants admitted to intensive care units with the complaint of hypotonia. Methods : A retrospective study was performed from Jan. 1993 to Dec. 2005 in neonatal and pediatric intensive care units of Seoul National University Children's Hospital. Clinical features and all tests related to hypotonia were investigated. Results : There were 21 cases of floppy infants admitted to intensive care units. Final diagnosis was classified as centra (7 cases[33.3 percent]), peripheral (11 cases [52.4 percent]), and unspecified (3 cases [14.3 percent]). Among the central group, three patients were diagnosed as hypoxic ischemic encephalopathy, two patients as Prader-Willi syndrome, one patient as chromosomal disorder, and one patient as transient hypotonia. Among the peripheral group, four patients were diagnosed as myotubular myopathy, three patients as SMA type 1, two patients as congenital myotonic dystrophy, one patient as congenital muscular dystrophy, and one as unspecified motor-neuron disease. Motor power was above grade 3 on average, and deep tendon reflex was brisk in the central group. Among investigations, electromyography showed 66 percent sensitivity in the peripheral group, and muscle biopsy was all diagnostic in the peripheral group. Brain image was diagnostic in the central group, and Prader-Willi FISH or karyotyping was helpful in diagnosis in central group. Morbidity and mortality was more severe in the peripheral group Conclusion : Classification of diagnosis by clinical characteristics in this study, and application of investigations step by step, may provide an effective diagnostic strategy.

• Journal of the Korean Orthopaedic Association
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• v.55 no.6
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• pp.511-519
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• 2020

Purpose: Schwannoma is a benign tumor that occurs mainly in the peripheral nerve. If the tumor is large or is in areas other than the nerves, it is likely to be mistaken for malignant soft tissue tumors. The authors reviewed 50 cases of giant schwannomas and assessed the distribution of the primary locations, clinical symptoms, radiological and pathological diagnosis, and diagnostic accuracy. Materials and Methods: Of the 214 pathologically confirmed schwannomas, 50 cases with a maximum diameter of 5 cm or more were extracted. The entire cohort was classified into three subgroups (major peripheral nerve, intramuscular, bone) according to the primary location, and the anatomical locations were specified. Results: When the entire cohort was classified according to the primary location, 14 tumors occurred in the major peripheral nerve, 31 cases in the muscle, and 5 cases in the bone. The mean size of the tumor in the entire cohort was 7.0 cm, and the intramuscular subgroup had the largest size with 8.0 cm. The radiological diagnosis revealed 33 out of 50 cases to be benign schwannoma (66.0%), 15 cases as low-grade malignancy (30.0%), and the remaining two cases (4.0%) as a suspicious tuberculosis abscess and tenosynovial giant cell tumor, respectively. On the clinical symptoms, Tinel sign was the most common in the peripheral nerve group with 78.6% (11/14), while 93.5% of the intramuscular group had palpation of the mass with a mean duration of 66.6 months. In the bone group, one out of five cases was reported as a low-grade malignancy. Two cases of postoperative complications were encountered; one was bleeding after tumor excision, which required hemostasis, and the other was peroneal nerve palsy after surgery. Conclusion: When assessing the large-sized soft tissue tumors in the muscles, the possibility of a benign schwannoma should be considered if 1) there is a long period of mass palpation and 2) non-specific findings in MRI. Preoperative pathology confirmation with a biopsy can help reduce the risk of overtreatment.