[CT Characteristics of Consolidation Type of Pulmonary Cryptococcosis in Immunocompetent Patients].

Objective To analyze the CT characteristics of consolidation type of pulmonary cryptococcosis in immunocompetent patients,and thus improve the diagnosis of this disease. Methods A total of 20 cases with consolidation-type pulmonary cryptococcosis confirmed by pathological examinations were studied.Each patient underwent breath-hold multislice spiral CT,and 10 patients underwent contrast enhanced CT.The data including lesion number,lesion distribution,lesion density,performance of enhanced CT scan,accompanying signs,and prognosis were analyzed. Results The occurrence rates of single and multiple lesions were 80.0%(n=16)and 20.0%(n=4),respectively.In all the 16 multiple-lesion patients,the occurrence rate of unilateral lobar distribution was 56.0%(n=9).The 76 measurable lesions mainly presented subpleural distribution(71.1%,n=54)and lower pulmonary distribution(75.0%,n=57).A total of 39 lesions were detected in the 10 patients received contrast enhanced CT,in which 31 lesions(79.5%)showed homogeneous enhancement,34 lesions(87.2%)showed moderate enhancement,and all the lesions manifested angiogram sign.Consolidation lesions were accompanied by many CT signs,of which air bronchogram sign had the occurrence rate of 63.2%(n=48),including types Ⅲ(n =37)and Ⅳ(n=11).Other signs included halo signs(43/76,56.6%),vacuoles or cavities(9/76,11.8%),pleural thickening(14/20,70.0%),and pleural effusion(2/20,10.0%).After treatment,the lesions of 7 patients were basically absorbed and eventually existed in the form of fibrosis. Conclusions The lesions in the immunocompetent patients with consolidation type of pulmonary cryptococcosis usually occur in the lower lobe and close to the pleura,mainly presenting unilateral distribution.The CT angiogram signs,proximal air bronchogram signs,and halo signs are the main features of this disease,which contribute to the diagnosis.

[CT findings of tuberous sclerosis associated with hepatic and renal angiomyolipomas].

OBJECTIVE: To summarize the clinical and computed tomographic(CT) findings of tuberous sclerosis(TS) associated with hepatic and renal angiomyolipomas. METHOD: We retrospectively analyzed the clinical and CT findings of 7 TS patients with hepatic and renal angiomyolipomas. RESULTS: Brain CT showed calcified nodules and/or the uncalcified nodule in the lateral ventricle subependymal in 7 patients. Abdominal CT showed bilateral renal angiomyolipomas in 7 cases and hepatic angiomyolipomas in 2 cases. Chest CT showed lymphangioleiomyomatosis in one case. CONCLUSIONS: TS associated with merger hepatic and/or renal angiomyolipomas have typical CT findings. Liver angiomyolipomas shows certain correlation with bilateral renal angiomyolipomas.

[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].

OBJECTIVE: To analyze the relationship between phenotype and genotype and the role of immune cells in the pathogenesis of X-linked Charcot-Marie-Tooth disease (CMT1X). METHODS: The probands of the two families with X-linked dominant inherited peripheral neuropathy were evaluated clinically, electrophysiologically, pathologically and genetically. The available family members were genetic analyzed and the novel mutations were compared with other known ones. RESULTS: (1) In both families, affected members presented progressive weakness and wasting of distal extremities and it seems that males suffered more severely than affected females with onset in the first decade of their life. Proband of family 1 showed moderately elevated CSF protein and marked increase of IgG-syn in CSF.(2) Nerve conduction velocity (NCV) of the peripheral nerves was intermediately slow in both motor and sensory nerves exhibiting the features of demyelination. Brain-stem auditory evoked potentials (BAEPs) was abnormal in the proband of family 1: delayed I-III interpeak intervals were recorded but with normal III-V interpeak intervals. (3) Sural nerve biopsy in the probands of the two families showed a prominent distinguished loss of myelinated fibers and a few clusters of regenerating axons without conspicuous onion-bulb formations. Thinly myelinated fibers was prominent in family 2 but not in family 1. Immunohistochemical staining showed that there were positive CD68 cells in the endoneurial space and lamellar sheath. (4) By genetic testing, we identified two novel missense mutations of GJB1 gene, which resulted in Ile127Phe amino acid substitution in family 1(located in the intracellular loop of connexin 32) and Asp178Gly amino acid substitution in family 2 (located in the 2(nd) extracellular loop of CX32), respectively. Both mutations were highly conserved in low species and were predicted to be possibly damaging through Polyphen prediction tool. CONCLUSION: The two novel GJB1 gene mutations cause a spectrum of clinical manifestations of CMT1X in both families. However, the mutations site of CX32 alone cannot predict these phenotypic variations in CMT1X fully. The immune system may be involved in the pathogenesis of the disease.

[Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders].

OBJECTIVE: To elicit the usefulness of muscle, sural nerve and skin biopsies in neuromuscular disease, including its diagnostic value and indications for biopsy. METHOD: The authors retrospectively evaluated the clinical data of every patient who underwent muscle, sural nerve and/or skin biopsy in the department between January 1999 and December 2004. RESULT: One hundred and two patients with the suspected neuromuscular diseases were included. Muscle disease or hereditary metabolic/degenerative diseases with muscular injury were suspected in 82 patients, specific or typical histological findings confirmed diagnosis in 33 of these patients. The diagnosis included muscular dystrophies in 13 patients; inflammatory myopathies in 4 patients; congenital centronuclear myopathies in 2 patients; vacuole myopathy in 1 patient; mitochondrial myopathies in 8 patients; lipid storage myopathy in 1 patient; glycogenosis in 1 patient; spinal muscular atrophy in 3 patients. Nonspecific changes were seen in 25 patients, and in 24 patients nothing abnormal was revealed. Neuropathy or hereditary metabolic/degenerative diseases with peripheral nerve injury were suspected in 23 patients, specific or typical histological findings confirmed diagnosis in 10 of these patients, including hereditary motor and sensory neuropathy in 9 patients and metachromatic leukodystrophy with peripheral nerve abnormality in 1 patient. Nonspecific changes were seen in 11 patients and 2 patients had normal sural nerve. Skin biopsies were performed in 8 patients, specific or typical histological findings confirmed diagnosis in 4 of these patients. The diagnosis included neuronal ceroid lipofuscinosis in 2 patients, infantile axonal dystrophy in 1 patient, vacuole lysosomal disease in 1 patient, and 4 patients had normal skin biopsy. CONCLUSION: Muscle, sural nerve and skin biopsies play an important role in diagnosis of childhood neuromuscular disease, and should be done only in carefully selected cases after thorough clinical work-up. Muscle biopsy is essential for diagnosis of congenital and metabolic myopathies. Typical pathologic alterations of sural nerve have diagnostic value for hereditary neuropathies. Skin biopsy should be performed to verify neuronal ceroid lipofuscinosis.