ABSTRACT
Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was more pronounced in adductor and flexor groups of muscles of the limbs, hip adductor muscles being the weakest. The selective and differential weakness between weak hip adductors and stronger hip abductors resulted in the hip abduction sign in 64% of cases. Distal muscle involvement in lower limbs was seen in 92% of cases, but was mild and late in the course of the disease. 44% patients had winging of scapulae. Immunocytochemistry showed multiple sarcoglycan deficiencies in 84% patients. Primary beta and delta sarcoglycanopathy was seen in the remaining 16% cases. Secondary dystrophin reduction was seen in 44% patients and correlated with beta sarcoglycan deficiency but not with functional disability.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Membrane Glycoproteins/deficiency , Muscular Dystrophies/etiology , Prospective StudiesABSTRACT
A 24 years male presented with daily episodes of uncontrollable laughter followed by urinary incontinence since the age of nine years. Some of these attacks progressed to generalized tonic-clonic seizures. General and neurological examination did not reveal any abnormality. Ictal and interictal video EEGs were normal. MRI showed a hypothalamic hamartoma. Interictal SPECT scan showed normal perfusion in the hamartoma. SPECT scan obtained four minutes after beginning of seizure showed that the perfusion increased in right cingulate gyrus but not in the hamartoma, suggesting the involvement of the cingulate gyrus in the seizure origin or pathway.
Subject(s)
Adult , Gyrus Cinguli/blood supply , Hamartoma/complications , Humans , Hypothalamic Neoplasms/complications , Laughter , Magnetic Resonance Imaging , Male , Seizures/etiology , Tomography, Emission-Computed, Single-Photon/methods , Urinary Incontinence/etiologyABSTRACT
We report a 26 year old woman presenting with a chronic predominantly motor radiculoneuropathy. A biopsy proven solitary lytic plasmacytoma was detected in the left sixth rib. Serum immunoelectrophoresis revealed 'M' band (IgG, l light chain). Excision of the plasmacytoma resulted in gradual but steady recovery. We suggest that all patients with 'cryptogenic' polyneuropathy be investigated for this potentially treatable condition. A high index of suspicion assists the organization of appropriate diagnostic investigations.