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Biomedical subjects

M C Roche

Publications and source records attributed to M C Roche.

At least 19 recordsLinked to original sources
PubMed2001

Hypohidrosis related to the administration of topiramate to children.

PURPOSE: Topiramate (TPM) is an antiepileptic agent, first licensed in the United Kingdom in 1994, that is used in the treatment of patients with refractory seizure disorders. TPM is a monosaccharide d-fructose derivate, with sulfamate function, and so far, few adverse side effects have been reported. METHODS: We describe three patients with epilepsy who were treated with TPM and developed hypohidrosis, heat and exercise intolerance, as well as fever. The sudomotor function was assessed after peripheral stimulation with pilocarpine iontophoresis. RESULTS: Sweat response was reduced in all three patients. Signs and symptoms ceased after drug suppression. CONCLUSIONS: This side effect associated with TPM, which has not been described previously, can be clinically significant during heat stress and exercise challenge.

Adolescent↗
PubMed2000

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

We report on a girl with minor anomalies and developmental delay carrying an apparently balanced paracentric inversion of chromosome 6q (q22qter). Fluorescent in situ hybridization analysis demonstrated a deletion of the subtelomeric region of 6q. This illustrates the use of specific subtelomeric fluorescent in situ hybridization probes to detect cryptic deletions as an important cause of mental retardation in seemingly balanced chromosome rearrangements.

Chromosome Deletion↗
PubMed1997

[Botulinum toxin as a treatment for infantile cerebral palsy].

OBJECTIVE: To review the results and adverse effects to botulinum toxin type A (BTA), Botox, in cerebral palsy (CP) spastic and/or dystonic in an open prospective study. MATERIAL AND METHODS: The first 39 cases treated were analyzed. They received 1-2 doses and were followed up to 12 months. BTA indications were wide: to improve limb function, to avoid surgical orthopedics or improve hygienics or dressing. O'Brien Global Assessment Scale (scored by neurologist, physiotherapist or parents), Ashworth spasticity scale, functional scale for dystonic upper limb (Sindou-Millet) and exam of position of foot, knee and hip, were used. RESULTS: Total doses/session was 1-10 U/kg. We observed adverse effects in 6 cases (15.4%), always mild and lasting only few days (general weakness, tiredness, instability). Positive effects lasted 4 months in upper limbs and 4.5 months in lower limbs. In upper limbs (9 cases injected) it was observed a global positive result of mild grade in 11-40%, moderate without functional improvement in 11-22%, and moderate-important with functional improvement in 40-78% of patients, being patient's evaluation the best and physiotherapist's one the worst. Spasticity improved 2 or more grades in Ashworth scale in 7/9 cases. Dystonia improved in proportion to dose. In lower limbs gastrocnemius muscles were injected in 29 cases (55 sessions), adductors in 14 cases (33 sessions), ischiotibialis in 8 cases (27 sessions), posterior tibialis in 8 cases (12 sessions). It was observed a global improvement null or mild in 20%, moderate without functional change in 35-44%, and moderate or important with functional improvement in 35-44%, with significative correlation between parent's, physiotherapist's and neurologist's scores. Spasticity was also significatively reduced after treatment. It went down 2 or more grades in Ashworth scale in 40% of ischiotibialis, 60% of adductors and 65% of gastrocnemius, in general with a doses-effect association. Foot position in walking improved from moderate to important grade in 2/3 of cases, as improved foot position while standing. Knee flexion and hip hyperadduction were reduced moderate-importantly in 60% and 40% of cases respectively. CONCLUSION: BTA is highly effective in the treatment of CP, and if associate with physiotherapy long and even permanent effect can be achieved.

Adolescent↗
PubMed1996

Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome.

PURPOSE: To describe the vascular and nonvascular intracranial and extracranial anomalies associated with hemangiomas and vascular malformations of the face, neck, and/or chest. METHODS: Seventeen patients had a physical examination and imaging studies consisting of one or more of the following: pneumoencephalography, conventional carotid and vertebral arteriography, CT, MR imaging, and MR angiography. RESULTS: Conventional arteriography revealed persistence of the trigeminal artery in 5 cases, absence of internal or external carotid and/or vertebral arteries in 11 cases, persistence of intervertebral arteries in 1 case, deformities of the aortic arch in 3 cases, and anomalies of the intracranial arteries in 3 cases. MR angiography revealed persistence of the trigeminal artery in 1 case in which conventional arteriography failed to show the malformation, and permitted visualization of narrowing of the intracranial arteries. CT and MR imaging showed a cerebellar anomaly in 8 cases and cerebral cortical dysplasia with cerebral hemispheric hypoplasia in 1 case. Vascular and nonvascular anomalies appeared ipsilateral to the external vascular abnormalities in most cases. CONCLUSION: This study demonstrates the association of cutaneous angiomas with anomalies affecting intracranial and extracranial arteries, the cerebellum, and, less frequently, the cerebral hemispheres and aortic arch. This association constitutes a relatively frequent neurocutaneous disorder, which we call the cutaneous hemangioma-vascular complex syndrome.

Abnormalities, Multiple↗
PubMed1994

Incontinentia pigmenti: MR demonstration of brain changes.

PURPOSE: To describe the MR findings in eight girls and women with incontinentia pigmenti, from two families. Four had skin lesions and neurologic disease, and four had only skin lesions. METHODS: Eight patients had physical examination, family history, electroencephalogram and MR examination of the brain. MR was repeated in the two cases with more severe changes several years after the first study. RESULTS: MR revealed brain changes only in the four patients who had neurologic disease associated with the cutaneous lesions of incontinentia pigmenti. Abnormalities were located in the cerebral hemisphere contralateral to the most affected side of the body. In two cases, the MR changes were subjacent to the scalp areas where the most severe cutaneous lesions were located in the neonatal period. Hypoplasia of the corpus callosum, probably secondary to atrophy of one or both cerebral hemispheres, and abnormal signal and atrophy of the lateral regions of one of the cerebellar hemispheres also were found in all four cases. Although the changes were seen in both the T1- and T2-weighted images, they were most evident in the latter. The four patients in the fourth stage who had only cutaneous lesions without neurologic problems did not reveal any MR abnormalities. CONCLUSIONS: This study demonstrates MR signal changes and focal atrophy of the cerebrum, cerebellum, and corpus callosum in patients with incontinentia pigmenti and neurologic disorders. The MR images appear normal in patients with incontinentia pigmenti who have no neurologic abnormalities.

Adolescent↗
PubMed1991

Dandy-Walker malformation: analysis of 38 cases.

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 cases); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra- and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.

Dandy-Walker Syndrome↗
PubMed1991

Primary intracranial arachnoidal cysts. A study of 67 childhood cases.

Sixty-seven cases (41 males and 26 females) of arachnoidal cysts in children under 11 years are reported. About 53% of cases were diagnosed before 1 year of life. Thirty-one (42.2%) were supratentorial (interhemispheric 9, temporal fossa 10, convexity 5, sylvian fissure 3, supra- and/or retrosellar 4); 31 (46.2%) infratentorial (supra- and/or retrocerebellar 22, foramen of Magendie 3, quadrigeminal cistern 5, pontocerebellar 1); 5 (7.5%) supra- and infratentorial. Macrocephaly was the presenting symptom in 48 cases (71.5%). Associated features were frequent: cranial asymmetry in 24; aqueductal stenosis in 10; agenesis of corpus callosum in 8; deficient cerebellar lobullation in 4; Chiari I malformation in 2; neurofibromatosis type 1 with dysgenetic zones of the brain in 1; arteriovenous malformation in 1. Diagnosis was made at autopsy in six cases in the days before computed tomography and magnetic resonance: three patients had a cyst in the supra- and retrocerebellar midline; two had a cyst in the quadrigeminal cistern and the sixth was a rare case with the cyst passing from the posterior fossa to the left lateral ventricle through a hole in the basal surface of the brain. Small and some middle-sized cysts were not treated. Big and some middle-sized cysts were usually treated by cysto- and/or ventriculoperitoneal shunts. Arachnoidal cysts of the quadrigeminal cistern usually present with aqueductal stenosis and have to be treated with ventriculoperitoneal shunt. Craniotomy and fenestration of the cysts were performed in some cases with good results. The average mental level of these children is usually moderately low.

Arachnoid Cysts↗
PubMed1986

LDH isoenzymes in CSF in the diagnosis of neonatal brain damage.

Lactate dehydrogenase isoenzymes in cerebrospinal fluid were measured during the first 24 h of life in 25 asphyctic neonates. The infants were subjected to clinical and developmental examinations for a mean follow-up period of 15.2 months. The mean values for cerebrospinal LDH2(MH3) and LDH3(M2H2) isoenzymes were significantly higher in asphyctic infants who died from hypoxic-ischemic encephalopathy or who survived but suffered neurologic sequelae, than they were in those asphyctic infants who survived and were normal in the follow-up studies. Therefore, the authors conclude that the lactate dehydrogenase isoenzyme pattern in cerebrospinal fluid may be of value when assessing anoxic brain damage.

Asphyxia Neonatorum↗
PubMed1983

[Mucolipidosis II or I-cell disease in the neonatal period].

A newborn with the clinical, radiological and biochemical features of mucolipidosis II or "I cell disease" is presented. Some aspects of differential diagnosis in neonatal period and of the outcome are commented. The infant had also a single right kidney and agammaglobulinemia without further alteration of the humoral or cellular immunity at 10 months of age.

Abnormalities, Multiple↗
PubMed1982

Choroid plexus papillomas of the fourth ventricle. Report of 3 cases.

3 cases with benign choroid plexus papillomas (CPP) in the fourth ventricle are described. All patients were less than 2 months of age. They were among 14 cases with intracranial CPP in a series of 100 tumors of the posterior fossa. Correct diagnosis was not obtained by means of pneumoencephalography, with apparently normal repletion of the fourth ventricle being visualized. 2 of the 3 patients died after application of the ventriculoperitoneal shunt and before extirpation of the tumor. All 3 patients soon presented hydrocephalus in 1 case already 'intra utero'.

Cerebral Ventricle Neoplasms↗
PubMed1980

[Etiology of mental deficiency. Study based on 3735 cases (author's transl)].

A study on the etiology of MD was done on 3735 children with mental retardation. Selection of patients was verified by precise alphabetical train in order to obtain the different factors of MD with objectivity. The highest percentage of MD was constituted by pathology concerning pre- and/or peripartum problems (53.78%), being on the contrary very low the percentage of MD of unknown etiology (8.219%). Authors think that it is possible to verified correct diagnosis of cases with MD if the clinical knowledge is large the adequate para-clinical studies (biochemistry, EEG, EMG, cytogenetic and neuroradiology) are practised. The unknown etiology of MD must be low. In their opinion MD accompanying CNS malformations and dysmorphic syndromes must not be classified as MD of unknown etiology. Emphasis is done on the necessity of having in consideration real percentages of etiological factors when programs for education of subnormal children are developed.

Adolescent↗
PubMed1978

[Urogenital infections and mycoplasms].

The role of genital mycoplasmas, e.g. M. hominis and U. urealyticum in urogenital infections is controversial. 120 samples were taken in 95 men and 25 women with urogenital infections and examined in the laboratory. Mycoplasmas were found in about 32% of men and 52% of women. M. Hominis is often associated with gonococcal infection and seems to play only a secondary role. The frequent isolation of U. urealyticum in various types of urethritis (gonococcal and non-gonococcal) is roughly the same. In the absence of a control investigation in healthy subjects, it is not possible to say whether it plays any role in urethritis.

Female↗
PubMed1977

Bilateral obstruction of the vertebral arteries in a three-year-old child.

A three-year-old boy developed gait instability, nausea, vomiting, cranial nerve disturbances, hypotonus and dysarthria. Angiography of the four main cranial arteries showed complete obstruction of both vertebral arteries at the level of C1 to C2. Abundant collateral circulation was observed, which by-passed the obstruction to the vertebral arteries before their enterance into the posterior cranial fossa. The left vertebral artery was hypoplastic and both internal carotid arteries showed coiling in their extracranial portions. A high erythrocyte sedimentation rate at the beginning of the disease suggests an inflammatory alteration of both dysplastic vertebral arteries. The child recovered completely one month after the onset of symptoms. All other reported cases of childhood vertebro-basilar obstruction are reviewed and it is emphasized that the site of arterial obstruction has an important bearing on the clinical outcome.

Arterial Occlusive Diseases↗