Lúcia Helena Coutinho dos Santos

Palmar Hyperhidrosis: Long-term Follow-up of Nine Children and Adolescents Treated with Botulinum Toxin Type A

Abstract:  Primary palmar hyperhidrosis in children and adolescents may be severe enough to affect school and physical activities, causing emotional problems, stress in the patient’s life, and a compromised quality of life. Nine patients with palmar hyperhidrosis underwent treatment with botulinum A. Before the session, and in the 1‐, 3‐, 6‐, 9‐, and 12‐month post‐session follow‐ups, the patients were administered the Minor test, gravimetry, the Scales of Frequency and Severity, and the Questionnaire of Quality of Life. The mean age was 11 years, with seven girls and two boys. Each patient was administered at least one treatment of botulinum toxin in the palm of the hands (75–150 U for palm), with the mean number of sessions 2.2 (range: 1–4). All sessions in the patients resulted in drying of the hands, with a mean duration of effect of 7 months. Botulinum toxin A controls excessive sweat in the palms of children and adolescents who have primary palmar hyperhidrosis, with an improvement in the quality of life. The therapy is safe and effective in this pediatric group and can be considered before surgical interventions.

Seizures associated with calcifications and edema in neurocysticercosis

We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations.

Myelomeningocele: A Brazilian University Hospital experience

We analyzed 31 children with myelomeningocele born between July 1990 and July 2000. Follow-up median was 24 months (6-68 months). Only 2 mothers had a known etiologic factor (diabetes mellitus). Twelve had the correct prenatal diagnosis. All children were born at term; 23 by cesarean; 13 had rupture of the membrane. Surgical correction had a 4 days median (1 to 44 days). Lumbosacral lesions were the most frequent (46%). Thirty patients were hydrocephalic, shunt was placed in 27. Meningitis was 4 times more frequent in shunted patients. Seven became epileptic (19.4%). Denver II test showed significant delay in gross motor development. Neurogenic bladder was diagnosed in 12 patients. Congenital clubfoot was the main orthopedic malformation (53%). Six infants died. Nowadays, 17 patients are being followed. A multidisciplinary approach probably helps for a better quality of life.

Identification and Functional Characterization of a Novel Mutation in the NKX2-1 Gene: Comparison with the Data in the Literature

BACKGROUND NKX2-1 mutations have been described in several patients with primary congenital hypothyroidism, respiratory distress, and benign hereditary chorea, which are classical manifestations of the brain-thyroid-lung syndrome (BTLS). METHODS The NKX2-1 gene was sequenced in the members of a Brazilian family with clinical features of BTLS, and a novel monoallelic mutation was identified in the affected patients. We introduced the mutation in an expression vector for the functional characterization by transfection experiments using both thyroidal and lung-specific promoters. RESULTS The mutation is a deletion of a cytosine at position 834 (ref. sequence NM_003317) (c.493delC) that causes a frameshift with formation of an abnormal protein from amino acid 165 and a premature stop at position 196. The last amino acid of the nuclear localization signal, the whole homeodomain, and the carboxy-terminus of NKX2-1 are all missing in the mutant protein, which has a premature stop codon at position 196 (p.Arg165Glyfs*32). The p.Arg165Glyfs*32 mutant does not bind DNA, and it is unable to transactivate the thyroglobulin (Tg) and the surfactant protein-C (SP-C) promoters. Interestingly, a dose-dependent dominant negative effect of the p.Arg165Glyfs*32 was demonstrated only on the Tg promoter, but not on the SP-C promoter. This effect was also noticed when the mutation was tested in presence of PAX8 or cofactors that synergize with NKX2-1 (P300 and TAZ). The functional effect was also compared with the data present in the literature and demonstrated that, so far, it is very difficult to establish a specific correlation among NKX2-1 mutations, their functional consequence, and the clinical phenotype of affected patients, thus suggesting that the detailed mechanisms of transcriptional regulation still remain unclear. CONCLUSIONS We describe a novel NKX2-1 mutation and demonstrate that haploinsufficiency may not be the only explanation for BTLS. Our results indicate that NKX2-1 activity is also finely regulated in a tissue-specific manner, and additional studies are required to better understand the complexities of genotype-phenotype correlations in the NKX2-1 deficiency syndrome.

Effective Results With Botulinum Toxin in Cerebral Palsy

This study evaluated the improvement in clinical measures and quality of life (QOL) among patients with cerebral palsy treated with botulinum toxin type A. Fifty-seven parents of cerebral palsy patients who used botulinum toxin during the time of the study were enrolled. The QOL questionnaires included the following: Child Caregiver Questionnaire, Pediatrics Outcomes Data Collection Instrument, and clinical evaluations. The questionnaires were administered before the first use of botulinum toxin and approximately 1 year later, a mean interval of 13.8 months. Treatment resulted in clinical improvement in tone, upper limb function, and Gross Motor Function Classification System score. Better outcomes were observed in patients younger than 6.5 years. QOL questionnaires revealed a tendency toward improvement in the comfort dimension of the Child Caregiver Questionnaire as well as in the upper extremities and physical functions, transfers and basic mobility, and global function and symptom of the Pediatrics Outcomes Data Collection Instrument. The QOL measures correlated with clinical evaluations. Patients with low cognitive ability and refractory epilepsy had the worst results. Children and adolescents have reduced spasticity and experience good results in the clinical measurements and in QOL after treatment with botulinum toxin.

Crescimento e antropometria em pacientes com paralisia cerebral hemiplégica

OBJECTIVE: To analyze the linear growth, the head circumference and the anthropometric differences between involved and non-involved sides of 24 children with hemiplegic cerebral palsy, comparing them to standard values for age. METHODS: This cross-sectional study enrolled 24 consecutive children with cerebral palsy clinically classified as spastic hemiplegia. The anthropometric measures included: weight, lenght, head circumference, total upper limb length, hand length, palm width, total lower limb length, foot length, and limb circumference of upper-arm, thigh and calf. The anthropometric differences between both sides were calculated in centimeters and a comparison of the involved and non-involved sides was made. Two different reference values were used to compare the measures of hand and foot length: growth charts and the software ABase® (a PalmOS-based software). The Spearmans correlation coefficient was estimated for the association between quantitative variables and the Wilcoxon non-parametric test was used for age comparisons between involved and noninvolved sides. RESULTS: The mean values of weight, length and head circumference were within the normal range for age and 21% of the children presented microcephaly. Discrepancy was noted between both sides in all cases, being the largest discrepancy in hand length and width. There was a positive correlation between the discrepancy observed in superior and inferior affected limbs (r=0.48), and discrepancy increases with age (r=0.44). CONCLUSION: Growth impairment in children with hemiplegic cerebral palsy was observed on the affected limbs and in smaller proportion in head circumference.

Landau-Kleffner syndrome: study of four cases

We describe four patients with clinical features of Landau-Kleffner syndrome and discuss electroencephalographic features, treatment and prognosis. Anticonvulsants and prednisone were used for treatment with good control of seizures in all cases and a less effect response in acquired aphasia. Further studies are necessary to elucidate the causes and management of this syndrome.

Evaluation of the Pediatric Symptom Checklist as a screening tool for the identification of emotional and psychosocial problems

OBJETIVO Investigar a Lista de Sintomas Pediatricos (LSP) como instrumento de triagem para identificar problemas emocionais e psicossociais em escolares de seis a 12 anos. METODOS Estudo do tipo teste diagnostico, realizado em uma escola publica de Curitiba, Parana, para avaliar a acuracia e a consistencia da LSP, considerando-se o Child Behavior Checklist (CBCL) como padrao-ouro. Dos 415 pais convidados a participar do estudo, 145 responderam a LSP e ao CBCL, constituindo a amostra. Os resultados dos dois instrumentos foram comparados. Considerou-se como positivo o escore da LSP ≥28 e o do CBCL >70 pontos. RESULTADOS Dos 145 questionarios, 49 (33,8%) tanto da LSP como do CBCL mostraram-se positivos. A curva ROC indicou 21 como o melhor ponto de corte para triagem de problemas emocionais e psicossociais, com sensibilidade de 96,8% e especificidade de 86,7%. No ponto de corte de referencia (≥28), observou-se sensibilidade de 64,5% e especificidade de 100,0%, similares as encontradas na versao americana do instrumento. CONCLUSOES A LSP mostrou-se eficaz para a identificao precoce de problemas emocionais e/ou psicossociais em um grupo de escolares, podendo ser uma ferramenta util ao pediatra.OBJECTIVE To investigate the Brazilian version of Pediatric Symptom Checklist (PSC) as a screening tool to identify psychosocial and emotional problems in schoolchildren from six to 12 years old. METHODS Diagnostic test conducted in a public school of Curitiba, Paraná (Southern Brazil), to evaluate the PSC accuracy and consistency, considering the Child Behavior Checklist (CBCL) as the gold standard. Among 415 parents invited for the study, 145 responded to both PSC and CBCL. The results of the two instruments were compared. PSC and CBCL were considered positive if scores ≥28 and >70 respectively. RESULTS Among the 145 cases, 49 (33.8%) were positive for both PSC and CBCL. The ROC curve showed the PSC score of 21 as the best cutoff point for screening psychosocial and emotional problems, with a sensitivity of 96.8% and a specificity of 86.7%. Regarding the reference cutoff (score ≥28 points), the sensitivity was 64.5% and the specificity, 100.0%, similar to those found in the original version of the tool. CONCLUSIONS The Portuguese version of PSC was effective for early identification of emotional and/or psychosocial problems in a schoolchildren group and may be useful for pediatricians.

Electrophysiological characteristics in four patients from Brazil with stiff person syndrome

Stiff person syndrome (SPS) is a rare immune-mediated disorder of the central nervous system characterized by muscle rigidity and episodic muscle spasms. The diagnosis of SPS is based on electrophysiological studies. We analyzed the electrophysiological features in four patients from Brazil who fulfilled the clinical criteria for SPS. The most common electrophysiological abnormalities were continuous motor unit activity, co-contracting, and the presence of the cutaneomuscular reflex. Despite all patients having clinical characteristics of SPS during the disease, no patient met all the electrophysiological criteria for SPS even after repeat electrophysiological studies. This shows that a diagnosis of SPS should not be restricted to patients with all the classic electrophysiological changes but should be considered in the presence of one or some of those changes.

Evaluation of sensorimotor polyneuropathy in children and adolescents with type I diabetes: associations with microalbuminuria and retinopathy

Abstract: To investigate diabetic polyneuropathy, we measured peroneal motor conduction velocity, sural sensory nerve conduction velocity and vibratory sense threshold (biothesiometry) in 28 children and adolescents with insulin‐dependent diabetes (type 1), and in 28 age‐ and sex‐matched, normal controls. Age varied from 8 to 19 yr (mean ± SD = 13.04 ± 2.61); age at the onset of diabetes from 9 months to 12 yr (4.53 ± 2.42 yr); and the duration of diabetes from 5 to 16 yr (8.48 ± 2.98). Eight patients (28%) fulfilled the minimal criteria for the diagnosis of polyneuropathy. Four of these patients showed symptoms while three had clinical signs of neuropathy. Eight patients had abnormal, sural sensory nerve conduction velocities. The presence of polyneuropathy did not correlate with the duration of diabetes or degree of metabolic control of diabetes. The prevalence of microvascular complications (microalbuminuria and retinopathy) was 32%. The presence of microvascular complications did not correlate with metabolic control but did with the duration of diabetes. The relationship between polyneuropathy and microvascular complications was 34%.