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Cowden disease: Unknown cause of familial megalencephaly
112. CONGENITAL MUSCULAR DYSTROPHY (CMD) WITH CEREBRAL ANOMALIES, EPILEPSY, AND OCULAR DYSFUNCTION Anamarli Nucci, Luciano S. Queiroz, Ana M.G. Piovezana, and Elizabeth M.A.B. Quagliato, Campinas, Brazil CMD with CNS involvement is common to the Fukuyama type CMD, muscle-eye-brain disease, cerebro-ocular dysplasia, and muscular dystrophy and Walker-Warburg syndrome. Whether these represent a single entity with variants or different entities is a matter of considerable debate at present, to which presentation of relevant cases may contribute. We studied two related caucasian boys with a congenital disease manifested by hypotonia, severe motor disability, mental retardation- including failure in acquisition of language- epilepsy, and visual disturbances. Routine blood and urine tests and screening for inborn errors of metabolism were noncontributory. Increased serum levels of muscle enzymes and myopathic EMGs suggested myopathy, which was confirmed by biopsy of biceps brachii in both patients. The pattern of muscle abnormalities was similar to those encountered in muscular dystrophies. Focal spikes were evident on sleep EEG. Repeated CT scans demonstrated cerebellar malformation in both patients and cerebral anomalies in one. Ophthalmologic findings included myopia and abnormally high visual evoked response.
113. MULTIPLE SCLEROSIS: CLINICAL PROFILE IN 71 CASES Maria Giovanna Marrosu, Maria Paola Pischedda, Gabriella Spinicci, Serenella Massole, Francesco Muntoni, and Carlo Cianchetti, Cagliari, Italy
Multiple sclerosis (MS) in childhood is considered to be an uncommon event. We reported 71 cases of definite (according to the criteria of Pose]" et al., 1983) MS which had initial clinical symptoms before the 18th birthday (MSc) and constitute the 18.4% of 385 patients. Female:male ratio in MSc was 3.4:1, while in 313 patients who had onset after 18 years of age (MSa), the ratio was 2.4:1 (P = .002, chi square test). Family history was positive for MS in a first-degree relative in 17.0% of MSc and 13.1% of MSa. The onset was slowly progressive in 53.5% of MSc and 46.0% of MSa, and acute in 46.5% of MSc and 54.0% of MSa. There were no differences between MSc and MSa regarding the duration of first symptoms and the concomitant factors at onset (vaccination, pregnancy, microbial or viral infection, physical or psychic trauma). Among the symptoms at onset, optic neuritis was less frequent (P = .008) in the MSc group (8.4%) as compared to MSa patients (16.3%). The degree of recovery from the initial episode was complete in 66.2% of MSc and 59.1% of MSa, partial in 16.9% of MSc and 22.0% of MSa, while no recovery was observed in 16.9% of MSc and 18.8% of MSa. The course was relapsing-remitting in 84.5% of MSc and in 79.5% of MSa, and chronic progressive in 15.5% of MSc and in 20.4% of MSa.
114. COWDEN DISEASE: UNKNOWN CAUSE OF FAMILIAL MEGALENCEPHALY Oebele F. Brouwer, Els A.J. Peeters, and George W. Padberg, Leiden, The Netherlands
A 7-month-old girl presented with nonprogressive macrocephaly. MRI revealed megalencephaly and no other abnormalities. In her mother and several other family members autosomal dominant Cowden disease (MIM 15835) with megalencephaly was diagnosed. Cowden disease is characterized by facial and acral papules, which usually appear in the second decade, and thyroid disease, breast tumors, and ovarian tumors. In addition, macrocephaly has been observed frequently, and mental retardation and seizures may be present as well. A dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) may occur in some patients and is considered to be part of the disease [Padberg et al., 1991]. The mode of inheritance, the clinical features, and the increased incidence of malignancy make this condition a true phakomatosis. In this young girl, a diagnosis of Cowden disease was made because of the megalencephaly, although the specific dermatologic features are not yet present at this age. Whether megalencephaly might serve as an early criterion for the diagnosis of Cowden disease has to be answered by future observations and genetic studies. Reference: Padberg GW, et al. Lhermitte-Duclos disease and Cowden disease: A single phakomatosis. Ann Neurol 1991;29:517-23. 115. NEUROGRAPHIC INVESTIGATIONS FANTS AND CHILDREN Karin Edebol Eeg-Olofsson, MD, Uppsala, Sweden
IN
IN-
Nerve conduction studies have through the years made a major contribution to the understanding of peripheral nerve function in health and disease states. In children, the clinical evaluation in several neurologic diseases is particularly difficult; and the neurographic investigation may provide information of extreme importance in making the diagnosis and in follow-up cases. The aim of this study is to investigate healthy infants and children neurographically with the knowledge and techniques available today, and form reference material for further use in clinics. The material is obtained from 80 healthy infants and children, ranging in age from newborns to 5 years. For the motor investigation the following nerves are used unilaterally: the median, ulnar, peroneal, and tibial nerves. The parameters of interest are: distal latency, duration and amplitude of the motor response, the conduction velocity, and the minimum and maximum latency of F-response as well as number of responses. For the sensory investigation the following nerves are used unilaterally: the median, ulnar, radial, and sural nerves. The parameters examined are: latency, duration, amplitude, and conduction velocity. The data are processed by a computerized program with special reference to neurographic studies. Preliminary results of the study will be presented. 116. CEREBROVASCULAR ACCIDENT RELATED TO MYCOPLASMA PNEUMONIAE (MP) Leonardo C. de Azevedo, Eduardo S.C. Faveret, and Eduardo J.B. Zayen, Rio de Janeiro, Brazil Various neurologic syndromes have been reported, which are associated with MP infection, including lymphocytic meningitis, acute encephalitis, cranial nerve neuritis, Guillain-Barr6 syndrome, and myelitis. The association with cerebral infarction has rarely been described and its pathogenesis poorly understood [Parker et al., 1981]. We describe a previously healthy 7-yearold white boy with acute right hemiparesis which was followed
PEDIATRIC NEUROLOGY Vol. 8 No. 5 373
113. MULTIPLE SCLEROSIS: CLINICAL PROFILE IN 71 CASES Maria Giovanna Marrosu, Maria Paola Pischedda, Gabriella Spinicci, Serenella Massole, Francesco Muntoni, and Carlo Cianchetti, Cagliari, Italy
Multiple sclerosis (MS) in childhood is considered to be an uncommon event. We reported 71 cases of definite (according to the criteria of Pose]" et al., 1983) MS which had initial clinical symptoms before the 18th birthday (MSc) and constitute the 18.4% of 385 patients. Female:male ratio in MSc was 3.4:1, while in 313 patients who had onset after 18 years of age (MSa), the ratio was 2.4:1 (P = .002, chi square test). Family history was positive for MS in a first-degree relative in 17.0% of MSc and 13.1% of MSa. The onset was slowly progressive in 53.5% of MSc and 46.0% of MSa, and acute in 46.5% of MSc and 54.0% of MSa. There were no differences between MSc and MSa regarding the duration of first symptoms and the concomitant factors at onset (vaccination, pregnancy, microbial or viral infection, physical or psychic trauma). Among the symptoms at onset, optic neuritis was less frequent (P = .008) in the MSc group (8.4%) as compared to MSa patients (16.3%). The degree of recovery from the initial episode was complete in 66.2% of MSc and 59.1% of MSa, partial in 16.9% of MSc and 22.0% of MSa, while no recovery was observed in 16.9% of MSc and 18.8% of MSa. The course was relapsing-remitting in 84.5% of MSc and in 79.5% of MSa, and chronic progressive in 15.5% of MSc and in 20.4% of MSa.
114. COWDEN DISEASE: UNKNOWN CAUSE OF FAMILIAL MEGALENCEPHALY Oebele F. Brouwer, Els A.J. Peeters, and George W. Padberg, Leiden, The Netherlands
A 7-month-old girl presented with nonprogressive macrocephaly. MRI revealed megalencephaly and no other abnormalities. In her mother and several other family members autosomal dominant Cowden disease (MIM 15835) with megalencephaly was diagnosed. Cowden disease is characterized by facial and acral papules, which usually appear in the second decade, and thyroid disease, breast tumors, and ovarian tumors. In addition, macrocephaly has been observed frequently, and mental retardation and seizures may be present as well. A dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) may occur in some patients and is considered to be part of the disease [Padberg et al., 1991]. The mode of inheritance, the clinical features, and the increased incidence of malignancy make this condition a true phakomatosis. In this young girl, a diagnosis of Cowden disease was made because of the megalencephaly, although the specific dermatologic features are not yet present at this age. Whether megalencephaly might serve as an early criterion for the diagnosis of Cowden disease has to be answered by future observations and genetic studies. Reference: Padberg GW, et al. Lhermitte-Duclos disease and Cowden disease: A single phakomatosis. Ann Neurol 1991;29:517-23. 115. NEUROGRAPHIC INVESTIGATIONS FANTS AND CHILDREN Karin Edebol Eeg-Olofsson, MD, Uppsala, Sweden
IN
IN-
Nerve conduction studies have through the years made a major contribution to the understanding of peripheral nerve function in health and disease states. In children, the clinical evaluation in several neurologic diseases is particularly difficult; and the neurographic investigation may provide information of extreme importance in making the diagnosis and in follow-up cases. The aim of this study is to investigate healthy infants and children neurographically with the knowledge and techniques available today, and form reference material for further use in clinics. The material is obtained from 80 healthy infants and children, ranging in age from newborns to 5 years. For the motor investigation the following nerves are used unilaterally: the median, ulnar, peroneal, and tibial nerves. The parameters of interest are: distal latency, duration and amplitude of the motor response, the conduction velocity, and the minimum and maximum latency of F-response as well as number of responses. For the sensory investigation the following nerves are used unilaterally: the median, ulnar, radial, and sural nerves. The parameters examined are: latency, duration, amplitude, and conduction velocity. The data are processed by a computerized program with special reference to neurographic studies. Preliminary results of the study will be presented. 116. CEREBROVASCULAR ACCIDENT RELATED TO MYCOPLASMA PNEUMONIAE (MP) Leonardo C. de Azevedo, Eduardo S.C. Faveret, and Eduardo J.B. Zayen, Rio de Janeiro, Brazil Various neurologic syndromes have been reported, which are associated with MP infection, including lymphocytic meningitis, acute encephalitis, cranial nerve neuritis, Guillain-Barr6 syndrome, and myelitis. The association with cerebral infarction has rarely been described and its pathogenesis poorly understood [Parker et al., 1981]. We describe a previously healthy 7-yearold white boy with acute right hemiparesis which was followed
PEDIATRIC NEUROLOGY Vol. 8 No. 5 373