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The rigid spine syndrome—A myopathy of uncertain nosological position
96
INTERNATIONAL ABSTRACTS
were treated later. Factors leading to exclusion from immediate surgical closure were (1) neurologic level proximal to Lz; (2) head circumference 2 cm or more above the 98th percentile; (3) other severe congenital anomalies; and (4) severe birth asphyxia, cerebral haemorrhage, or prematurity. Only 16% of those "selected out" survived, whereas 75% of those having early surgery survived. Approximately half of the patients in the unselected group and the selected group required shunt insertion for hydrocephalus. Eighty-eight percent of the surviving selected out patients required shunting. Mobility was improved in the selected in group, almost 50% having normal or slightly impaired movement. Thirty-five percent of those selected in have normal urinary continence, compared with 24% in the unselected group. Overall intelligence appears to be better in the selected in group. The criteria being applied for selection in these patients appears to relate to morbidity, either physical or intellectual, and not to mortality.--Alasdair H.B. Fyfe Severe Handicap in Spina Bifida: No Bar to Intermittent SelfCatheterisation. R.O. Robinson, M. Cockram, and M. Strode. Arch
Dis Child 60:760 776, (August), 1985. Twenty-four children from 5 to 17 years of age were studied. There being 13 boys and 11 girls. Most of the children had high spina bifida lesions. Thirteen had severe spinal deformities. Eleven children had full scale IQ between 51 and 70. One had IQ of <40, and the remainder had normal IQ levels. Seven children were completely dry with 3-hourly intermittent catheterization alone. A further five had complete continence with the addition of drugs. Nine were occasionally damp with catheterization plus/minus drugs. Thus, a complete or near-complete continence was achieved in 21 children (87.5%). Of these 21 children, 14 sustained intermittent catheterization. One stopped temporarily while he underwent spinal fusion. Another became dry with ephedrine alone. The remaining five stopped for technical failure at various stages. Motivation was considered as most important in relation to successful self-catheterization. A low IQ or severe physical handicap does not preclude succes with the technique.--Alasdair H.B. Fyfe The Rigid Spine Syndrome--A Myopathy of Uncertain Nosological Position. W. Poewe, H. Willeit, E. Sluga, et al. J Neural Neurosurg
Psych 48:887-893, (September), 1985. The syndrome was originally described by Dubowitz in 1965. It is a muscular disorder resembling muscular dystrophy at its onset in infancy, but it is a benign nonprogressive disorder with the development of only mild weakness. The cardinal features are a marked limitation of flexion of the cervical and dorsolumbar spine with the development of scoliosis and contracture of joints, especially the elbows. The authors report four cases. The condition mainly affects boys and is usually sporadic. A few patients have had a fatal cardiopathy, and progressive scoliosis may cause cardiorespiratory problems in early adult life.--R.J. Brereton NEOPLASMS Noncirrhotic Portal Fibrosis after WUms" Tumor Therapy, J.A.
Barnard, G.S. Marshall, W.W. Neblett, et al. Gastroenterol 90:1054-1056, (April), 1986. A 9-year-old girl presented with a right Wilms' tumor, which had tumor thrombus within the inferior vena cava that was totally excised. She had a stage III Wilms' tumor of "favorable" histology. She was treated with actinomycin D and vincristine for 16 months and had 2,000 rads delivered to the right renal bed in 11 daily doses. Twenty-six months postoperatively she presented with hematemesis
and work-up revealed portal hypertension. The biopsy showed diffuse obliteration of intrahepatic portal venous radicals characteristic of noncirrhotic portal fibrosis. The central veins as well as the extrahepatic portal venous system were clearly patent. A distal splenorenal shunt was performed, and the postoperative recovery was uneventful. This is the first report of noncirrhotic portal fibrosis following antitumor therapy.--Richard R. Ricketts Serum Neuron-Specific Enolase in Children with Neuroblastoma. (Relationship to Stage and Disease Course). P.M. Zelter, P.J.
Marangos, A.E. Evans, et al. Cancer 57:1230-1234, (March), 1986. Serum neuron-specific enolase (NSE) was measured in 61 children at diagnosis with all stages of neuroblastoma. The median serum values for stages I, II, III, IV, and IV-S were 13, 23, 40, 214, and 40 ng/mL, respectively. Mean serum levels were different between groups I v IV (P - .0004), II v IV (P = .0001), and IV-S v IV (P = .004). The prognostic value of serum N S E for disease-free survival was determined in 54 patients at risk for relapse 2 or more years after diagnosis. The disease-free survival rate of all patients with levels <100 n g / m L was 27/34 (79%), whereas it was 2/20 (10%) for those with higher levels. In 28 patients with lower stage disease and a good prognosis (stages I, II, and IV-S) NSE levels were not predictive of relapse. Only 1 of these 28 patients had a raised level (>100 ng/mL) and survived without relapse, whereas four patients who relapsed had serum NSE < 100 n g / m L at diagnosis. In patients with stages III and IV disease, a raised serum NSE level was associated with poor outcome: only 1/19 (5%) survived with N S E levels >100 ng/mL, whereas survival was 5/8 (63%) with values below 100 ng/mL. Serial samples were analyzed on 17 patients; all 8 patients with initial NSE levels > 100 n g / m L achieved near normal levels during remission (median 21 ng/mL). However, in only 4/10 patients studied at time of relapse did the levels rise coincident with relapse. The sera of 47 patients with other forms of cancer and 19 siblings were at or near the normal limits (0 to 15 ng/mL) with three exceptions: acute lymphoblastic leukemia (286 ng/mL), hepatoblastoma (176 ng/mL), and primitive neuroectodermal tumor (105 ng/mL). Serum N S E was a useful marker for patients with advanced neuroblastoma in whom elevated levels were associated with a poor outcome; the raised NSE levels returned to near normal after therapy. In patients with stage IV-S, disease serum NSE levels were significantly lower than those in stage IV despite their extensive tumour burden. Serum N S E estimation may confirm Stage IV-S status and suggest a more benign clinical course.--Prem Puri Familial Neuroblastoma (Case Reports, Literature Review and Etiologic Consideration. B.H. Kushner, F. Gilbert, and L. He/-
son.Cancer 57:1887-1893, (May), 1986.
The phenomenon of familial neuroblastoma is discussed in the context of case reports describing disseminated neuroblastoma in 2 of 3 half-brothers who share a common unaffected mother and who have a different father. This family's cytogenetics proved to be unremarkable. Also, the mother's peripheral blood D N A did not show tumorigenic capacities in transfection-nude mice experiments. An analysis of reported cases permits an updated examination of the clinical features of this entity and defines the limits of genetic counseling of families of all neuroblastoma patients. Multiple primaries are a hallmark of familial neuroblastoma. Most diagnoses are made in the first 18 months of life and at ages that fall within 12 months of the age of diagnosis of the other affected family members. Difficulties in determining the incidence and penetrance of an
INTERNATIONAL ABSTRACTS
were treated later. Factors leading to exclusion from immediate surgical closure were (1) neurologic level proximal to Lz; (2) head circumference 2 cm or more above the 98th percentile; (3) other severe congenital anomalies; and (4) severe birth asphyxia, cerebral haemorrhage, or prematurity. Only 16% of those "selected out" survived, whereas 75% of those having early surgery survived. Approximately half of the patients in the unselected group and the selected group required shunt insertion for hydrocephalus. Eighty-eight percent of the surviving selected out patients required shunting. Mobility was improved in the selected in group, almost 50% having normal or slightly impaired movement. Thirty-five percent of those selected in have normal urinary continence, compared with 24% in the unselected group. Overall intelligence appears to be better in the selected in group. The criteria being applied for selection in these patients appears to relate to morbidity, either physical or intellectual, and not to mortality.--Alasdair H.B. Fyfe Severe Handicap in Spina Bifida: No Bar to Intermittent SelfCatheterisation. R.O. Robinson, M. Cockram, and M. Strode. Arch
Dis Child 60:760 776, (August), 1985. Twenty-four children from 5 to 17 years of age were studied. There being 13 boys and 11 girls. Most of the children had high spina bifida lesions. Thirteen had severe spinal deformities. Eleven children had full scale IQ between 51 and 70. One had IQ of <40, and the remainder had normal IQ levels. Seven children were completely dry with 3-hourly intermittent catheterization alone. A further five had complete continence with the addition of drugs. Nine were occasionally damp with catheterization plus/minus drugs. Thus, a complete or near-complete continence was achieved in 21 children (87.5%). Of these 21 children, 14 sustained intermittent catheterization. One stopped temporarily while he underwent spinal fusion. Another became dry with ephedrine alone. The remaining five stopped for technical failure at various stages. Motivation was considered as most important in relation to successful self-catheterization. A low IQ or severe physical handicap does not preclude succes with the technique.--Alasdair H.B. Fyfe The Rigid Spine Syndrome--A Myopathy of Uncertain Nosological Position. W. Poewe, H. Willeit, E. Sluga, et al. J Neural Neurosurg
Psych 48:887-893, (September), 1985. The syndrome was originally described by Dubowitz in 1965. It is a muscular disorder resembling muscular dystrophy at its onset in infancy, but it is a benign nonprogressive disorder with the development of only mild weakness. The cardinal features are a marked limitation of flexion of the cervical and dorsolumbar spine with the development of scoliosis and contracture of joints, especially the elbows. The authors report four cases. The condition mainly affects boys and is usually sporadic. A few patients have had a fatal cardiopathy, and progressive scoliosis may cause cardiorespiratory problems in early adult life.--R.J. Brereton NEOPLASMS Noncirrhotic Portal Fibrosis after WUms" Tumor Therapy, J.A.
Barnard, G.S. Marshall, W.W. Neblett, et al. Gastroenterol 90:1054-1056, (April), 1986. A 9-year-old girl presented with a right Wilms' tumor, which had tumor thrombus within the inferior vena cava that was totally excised. She had a stage III Wilms' tumor of "favorable" histology. She was treated with actinomycin D and vincristine for 16 months and had 2,000 rads delivered to the right renal bed in 11 daily doses. Twenty-six months postoperatively she presented with hematemesis
and work-up revealed portal hypertension. The biopsy showed diffuse obliteration of intrahepatic portal venous radicals characteristic of noncirrhotic portal fibrosis. The central veins as well as the extrahepatic portal venous system were clearly patent. A distal splenorenal shunt was performed, and the postoperative recovery was uneventful. This is the first report of noncirrhotic portal fibrosis following antitumor therapy.--Richard R. Ricketts Serum Neuron-Specific Enolase in Children with Neuroblastoma. (Relationship to Stage and Disease Course). P.M. Zelter, P.J.
Marangos, A.E. Evans, et al. Cancer 57:1230-1234, (March), 1986. Serum neuron-specific enolase (NSE) was measured in 61 children at diagnosis with all stages of neuroblastoma. The median serum values for stages I, II, III, IV, and IV-S were 13, 23, 40, 214, and 40 ng/mL, respectively. Mean serum levels were different between groups I v IV (P - .0004), II v IV (P = .0001), and IV-S v IV (P = .004). The prognostic value of serum N S E for disease-free survival was determined in 54 patients at risk for relapse 2 or more years after diagnosis. The disease-free survival rate of all patients with levels <100 n g / m L was 27/34 (79%), whereas it was 2/20 (10%) for those with higher levels. In 28 patients with lower stage disease and a good prognosis (stages I, II, and IV-S) NSE levels were not predictive of relapse. Only 1 of these 28 patients had a raised level (>100 ng/mL) and survived without relapse, whereas four patients who relapsed had serum NSE < 100 n g / m L at diagnosis. In patients with stages III and IV disease, a raised serum NSE level was associated with poor outcome: only 1/19 (5%) survived with N S E levels >100 ng/mL, whereas survival was 5/8 (63%) with values below 100 ng/mL. Serial samples were analyzed on 17 patients; all 8 patients with initial NSE levels > 100 n g / m L achieved near normal levels during remission (median 21 ng/mL). However, in only 4/10 patients studied at time of relapse did the levels rise coincident with relapse. The sera of 47 patients with other forms of cancer and 19 siblings were at or near the normal limits (0 to 15 ng/mL) with three exceptions: acute lymphoblastic leukemia (286 ng/mL), hepatoblastoma (176 ng/mL), and primitive neuroectodermal tumor (105 ng/mL). Serum N S E was a useful marker for patients with advanced neuroblastoma in whom elevated levels were associated with a poor outcome; the raised NSE levels returned to near normal after therapy. In patients with stage IV-S, disease serum NSE levels were significantly lower than those in stage IV despite their extensive tumour burden. Serum N S E estimation may confirm Stage IV-S status and suggest a more benign clinical course.--Prem Puri Familial Neuroblastoma (Case Reports, Literature Review and Etiologic Consideration. B.H. Kushner, F. Gilbert, and L. He/-
son.Cancer 57:1887-1893, (May), 1986.
The phenomenon of familial neuroblastoma is discussed in the context of case reports describing disseminated neuroblastoma in 2 of 3 half-brothers who share a common unaffected mother and who have a different father. This family's cytogenetics proved to be unremarkable. Also, the mother's peripheral blood D N A did not show tumorigenic capacities in transfection-nude mice experiments. An analysis of reported cases permits an updated examination of the clinical features of this entity and defines the limits of genetic counseling of families of all neuroblastoma patients. Multiple primaries are a hallmark of familial neuroblastoma. Most diagnoses are made in the first 18 months of life and at ages that fall within 12 months of the age of diagnosis of the other affected family members. Difficulties in determining the incidence and penetrance of an