Fishbones are the most common upper aerodigestive and esophageal foreign body found in adults. Usually these bones pass, but when complications arise, they can be catastrophic and may include neck abscesses, mediastinitis, and esophago-aortic or esophagocarotid fistulas. We report the radiologic findings of fishbone injury occurring in a 48-year-old man in whom a globefish bone had penentrated the hypopharynx and migrated to the sternocleidomastoid muscle.
Abscess ; Adult ; Fistula ; Foreign Bodies ; Humans ; Hypopharynx ; Mediastinitis ; Middle Aged ; Neck

Amyloidosis which represents neuropathy due to the systematic amyloid fibril deposits has two types; the non-hereditary primary amyloid polyneuropathy (PAP) and the familial amyloidotic polyneuropathy (FAP). The clinical manifestations of the two diseases are similar, but the FAP is an autosomal dominant disease and has better prognosis than the PAP. The PAP is a rare disease which displays relatively rapid progress and severe hypoalbum-inemia. We report a 50-year-old male patient admitted due to weight loss, orthostatic hypotension, and the unique sensory changes which pain and temperature sensations are decreased on the periumbilical area and lower extremity. The patient shows severe proteinuria, hypoalbuminemia and generalized edema. There are definite amyloid deposits in the biopsied sural nerve in the light and polarizing microscope and amyloid fibrils in the electron microscope. But no abnormality of transthyretin gene is found in this patient and one cousin. The transthyretin DNA analysis is useful for the differential diagnosis of PAP and FAP.
Amyloid Neuropathies* ; Amyloid* ; Amyloidosis ; Diagnosis, Differential ; DNA ; Edema ; Humans ; Hypoalbuminemia ; Hypotension, Orthostatic ; Lower Extremity ; Male ; Middle Aged ; Plaque, Amyloid ; Polyneuropathies ; Prealbumin ; Prognosis ; Proteinuria ; Rare Diseases ; Sensation ; Sural Nerve ; Weight Loss

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is pathologically divided into the following two types: demyelinating type and axonal type. This study aimed to analyze the results of the electrophysiological studies of CMT1A and to reevaluate the clinical significance of nerve conduction studies (NCS). METHODS: The subjects of the study were 18 patients with genetically confirmed CMT1A during the period of 1995. 1.-2004. 8. The NCS data from 22 family members of the patients were also included. The nerve conduction velocities, conduction blocks and compound muscle action potentials were analyzed. RESULTS: The subjects were composed of 19 males and 21 females. The mean NCV was 21.70 m/s in the median nerve, and the conduction block was observed in 13 patients (32.5%). The NCV was uniformly slow. The intrafamilial variation of NCVs between parents and their children were analyzed in 30 patients from 11 families. The mean velocity was 24.44+/-3.67 m/s in parents and 19.53+/-5.37m/s in their children. CONCLUSIONS: The CMT1A showed the slowness in NCV, one of the characteristics of demyelinating neuropathy, and this slowing had a uniform pattern. Nerve conduction block was also frequently observed, the pattern of which was diffuse without dispersion, and non segmental. Because the NCV of the children tended to be slower than that of the parents, CMT1A may not be a simple progressive disease. The onset and progression of CMT1A may be determined by other genetic and environmental factors.
Action Potentials ; Axons ; Child ; Female ; Humans ; Male ; Median Nerve ; Neural Conduction ; Parents

Dedifferentiated liposarcoma occurs in less than 10% of all liposarcoma and is found most often in the retroperitoneum and extremities. Histologically, the tumor was composed of well-defferentiated liposarcomastous areas with malignant fibrous histiocytoma-like area, peculiar neurallike whirling pattern associated and focal metaplastic bone formation. The rare radiologic feature of this have not been sufficiently described in the previous literature, and we now report a case of dedifferentiated liposarcoma in the thigh.
Extremities ; Liposarcoma* ; Osteogenesis ; Thigh*

Pneumoperitoneum, Pneumomediastinum, subcutaneous emphysema and a pneumothorax are some of the mechanical complications of bronchial asthma. The incidence of pneumoperitoneum during an attack of acute asthma is rare. The pathogenesis is free gas track from the overdistended alveoli, through the bronchovascular sheaths to the mediastinum. If the high pressure is maintained, air can escape retroperitoneally into the abdomen and burst into the peritoneal cavity. A 43-year-old woman was admitted due to a severe asthma attack. She was required endotracheal intubation and AMBU(air mask bag unit) ventilation. Immediately after these procedures, pneumoperiotneum, pneumomediastinum, and subcutaneous emphysema daveloped. She was treated with mechanical ventilation and medical therapy. The pneumoperitoneum was resolved after 27 days. Here, we report this case with the review of the relevant literature.
Abdomen ; Adult ; Asthma* ; Female ; Humans ; Incidence ; Intubation, Intratracheal ; Masks ; Mediastinal Emphysema* ; Mediastinum ; Peritoneal Cavity ; Pneumoperitoneum* ; Pneumothorax ; Respiration, Artificial ; Subcutaneous Emphysema ; United Nations ; Ventilation*

Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.
Charcot-Marie-Tooth Disease ; Humans ; Parents ; Phenotype ; Siblings

X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.
Female ; Genes, X-Linked ; Hereditary Sensory and Motor Neuropathy ; Humans ; Male ; Mutation, Missense* ; Phenotype

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Neurofilament light chain polypeptide (NEFL) is one of the most abundant cytoskeletal components of the neuron. The NEFL gene encoding the neurofilament light chain plays an important role in the axonal structure that includes an extensive fibrous network in the cytoplasm of the neuron. Mutations in the NEFL gene are also present in CMT2E, CMT type 1 and Dejerine-Sottas syndrome. However, there have been no reports to investigate the NEFL genes in Korean CMT patients. Therefore, we investigated to find the clinical characteristics in patients with the NEFL gene mutation. METHODS: We examined mutations of the NEFL gene in 125 Korean CMT families. Mutations were confirmed by the sequencing of both strands. Nerve conduction studies were carried out on CMT patients having each mutation. RESULTS: Three pathogenic mutations were found in 3 families, and 2 polymorphisms in 2 families. Two mutations (Leu334Pro, Pro22Arg) were determined too novel, and those were not detected in 105 healthy controls. A de novo missense mutation was found in a CMT family with the NEFL mutation. The frequency of the NEFL mutation was 2.4%, which was similar in Europeans, and lower than those found in Japanese. Pro22Arg and Glu397Lys mutations showed demyelinating neuropathy and Leu334pro mutation showed axonal neuropathy. CONCLUSIONS: We found NEFL mutations in patients with sporadic or dominantly inherited CMT. NEFL mutations should be considered in the evaluation of CMT or related neuropathies with various clinical features.
Asian Continental Ancestry Group ; Axons ; Charcot-Marie-Tooth Disease* ; Cytoplasm ; Hereditary Sensory and Motor Neuropathy ; Humans ; Mutation, Missense ; Neural Conduction ; Neurons

Charcot-Marie-Tooth disease (CMT) with hearing impairment is a clinically distinct rare entity described in a few families, usually with a demyelinating neuropathy. The molecular basis for this disease has not been established with certainty. Audiological evaluation has revealed auditory neuropathy in the affected individual. We report a CMT1A family with sensorineural hearing loss and a novel frame shift mutation Ala106fs (318delT) in the PMP22 gene.
Charcot-Marie-Tooth Disease ; Deafness ; Frameshift Mutation* ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans