Congenital spinal lipomatous malformations: part I--Classification.

BACKGROUND: Congenital spinal lipomatous malformations constitute a diverse group of lesions. There is considerable confusion in the literature regarding their terminology and a proper classification is long overdue. The first part of this two part report sets out a proposed classification scheme. METHODS: On the basis of this author's experience with 80 patients with a congenital spinal lipomatous malformation treated over a 10 year period, a new classification is proposed. The proposed classification divides congenital spinal lipomatous malformations into two broad groups: 1. Lipomas without dural defect and, 2. Lipomas with dural defect. Within each group, there are several subtypes. These two broad groups differ from one another in their embryology, clinical presentation, operative findings, complications and prognosis FINDINGS: Group I consists of Lipomas without dural defect. Included in this group are: Filum lipoma, caudal lipoma without dural defect, and intramedullary lipoma. Group II consists of lipomas with dural defect. Included in this group are: dorsal lipoma, caudal lipoma with dural defect, transitional lipoma, lipomyelocele, and lipomyelomeningocele. The definitions of the various subtypes and radiological and operative findings of all these lesions are described. CONCLUSIONS: Congenital spinal lipomatous malformations constitute a wide spectrum of lesions ranging from relatively simple lipomas of the filum terminale to complex malformations. These lesions differ from one another in their embryology, clinical presentation, operative strategies, complications and prognosis. Failure to differentiate between the different forms of congenital spinal lipomatous malformations may lead to inaccurate assumptions regarding prognosis and inappropriate management. The proposed classification seeks to address these issues.

Congenital spinal lipomatous malformations: part II--Clinical presentation, operative findings, and outcome.

BACKGROUND: To report this author's experience with patients with a congenital spinal lipomatous malformation with special emphasis on variations in clinical presentation, operative findings, and outcome based on the classification scheme proposed in the first part of this two part article. METHODS: From January 1995 to July 2005, 80 patients with a congenital spinal lipomatous malformation were treated. All patients underwent routine neurological examination, plain radiographs of the spine and all but 10 patients underwent MRI. Ten patients underwent CT-myelography. Hoffman's functional grading scale was used for preoperative and postoperative clinical assessment. The operative findings, complications and outcome were assessed. FINDINGS: Age ranged from 18 days to 19 years. The female: male ratio was 3:2. The malformations were divided into two groups: Group I: Lipomas without a dural defect and, Group II: Lipomas with a dural defect. Included in Group I were: 22 patients out of which there were Caudal lipomas: 10, Filum lipomas:11 and intramedullary lipoma: 1. In Group II there were 58 patients out of which there were Dorsal lipomas: 8, Caudal lipomas with dural defect: 8, Transitional lipomas: 10, lipomyelomeningoceles:28, lipomyeloceles: 4. Most of the group I patients were >5 years of age; cutaneous markers were absent in 60%, older children more often presented with sphincter disturbances. Surgery in group I was straight forward and consisted of sectioning of the filum in filum lipomas, debulking and untethering in caudal lipomas. Duroplasty was seldom required. CSF leak was rare. No patient deteriorated following surgery and no retethering was noted during follow-up. In Group II, all patients had cutaneous markers, most were <2 years of age, 19 were asymptomatic, older children had more severe neurological deficits. Duroplasty was required in most cases. A CSF leak occurred in 12%. Two patients deteriorated temporarily following surgery. Two patients presented with retethering 4 and 8 years after initial surgery. Improvement of more than one Hoffman's functional grade occurred when surgery was done <2 years of age. CONCLUSIONS: Congenital spinal lipomatous malformations do not constitute a single homogenous entity. They can be broadly classified into two groups depending on the presence or absence of a dural defect. These two groups are different from one another embryologically, clinically, surgically and prognostically.

Neurological classification in myelomeningocele as a spine deformity predictor.

In myelomeningocele, spinal deformities are responsible for major disability. Our aim was to check the predictive power for future spine deformity of a neurological classification applied at 5 years of age. We classified patients into four groups according to their neurological examination made at the age of 5 years. Groups were defined as follows: group I, L5 or below (meaning that all the patients in this group have a paralysis that at least leaves the L5 segment intact); group II, L3-L4; group III, L1-L2; group IV, T12 and above (meaning that all the patients in this group have a paralysis that reaches T11 or above). One hundred and sixty-three patients were included. The results showed that group I is a predictor for the absence of spinal deformity. Group III or IV is a predictor for spinal deformity. Group IV is a predictor of kyphosis. It was previously known that the higher the neurological level, the higher the rate of spinal deformity at maturity, but no work had given physicians a guideline to assess the spinal prognosis in myelomeningocele patients. Our work showed, on the basis of this classification made at the age of 5 years, that future spinal disorders may be expected in some patients, while no spinal deformity may be expected in some others. Thus, an appropriate therapeutic strategy and follow-up can be planned.

CITED2 Mutations in Conserved Regions Contribute to Conotruncal Heart Defects in Chinese Children.

Conotruncal heart defects (CTDs) are severe malformations of outflow tract with heterogeneous morphology. Several missense variants of CITED2 have been identified to cause CTDs in recent researches. In this study, we screened the coding regions of CITED2 in 605 Chinese children with CTDs and found two possible pathogenic mutant sites: p.Q117L and p.T257A, both located in the conserved regions of CITED2. Then, we investigated the biological and functional alterations of them. Western blotting showed low level of protein expression of mutant Q117 and T257A compared with wild-type CITED2. Dual-luciferase reporter assay demonstrated that mutant Q117 and T257A decreased the ability of CITED2 to modulate the expression of paired-like homeodomain transcription factor 2 gamma (PITX2C), which are closely related to cardiac growth and left-right patterning. Meanwhile, T257A also exhibited impaired ability to mediate vascular endothelial growth factor expression, another gene closely associated with the normal development of cardiovascular system. Three-dimensional molecular conformation showed reduced hydrogen bond between Asp254 and mutant Thr257, indicating the weakened stability and binding ability of CITED2. All these results suggest that CITED2 mutations in conserved regions lead to disease-causing biological and functional changes and may contribute to the occurrence of CTDs.

Possible causal heterogeneity in spina bifida cystica.

A study was performed to determine whether causal heterogeneity can be demonstrated among the nonsyndromal spina bifida cysticas based on the vertebral level of the defect. Two groups were compared, probands with defects at or above T 11, likely representing defects of neuralization, and probands with defects at or below T 12, likely defects of canalization. Differences between the two groups were found with respect to reproductive history and occurrence of other malformations. A high degree of concordance for the type of defect among affected sib pairs was also observed. These findings indicate that there is probably heterogeneity within the spina bifida cysticas based on the level of the defect.

Chiari complex in children--neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases).

Chiari malformations are a group of anomalies particularly involving the hindbrain and cervical spinal cord. Since these malformations present many common features, we called them "Chiari Complex". After reviewing our 312 patients affected by different types of Chiari malformations we propose the following classification: Chiari I (30 cases): 1) This malformation may be divided in two sub-types: a) classic and b) myelencephalic forms. 2) Only three children were admitted with specific clinical symptoms and they had an occipito-cervical surgical decompression. Chiari II (276 cases): 1) Most of our patients (70%) presented with progressive hydrocephalus and they needed a CSF shunt to be inserted. 2) Seven sub-types of 4th ventricle morphology and size were identified. 3) Only 11 patients underwent a cervical decompression; in 182 children CSF shunting resulted in a good clinical outcome. Chiari III (2 cases): Chiari II signs must be associated with an occipito-cervical cephalocele. In both cases there were other severe associated CNS malformations. Chiari IV (4 cases): We propose this name for patients with myelomeningocele (MMC) and severe cerebellar hypoplasia.

Classification of patients with myelodysplasia according to the level of neurosegmental lesion as a basis of motor function assessment.

The purpose of this article is to present the current principles of comprehensive assessment and treatment of patients with myelomeningocele. We present the connection between the level of neurosegmental lesion according to modified Sharrard's classification and functional abilities of the patient. We describe lower limbs deformity typically associated with neurosegmental lesions of spina bifida at different levels (I to VI). The classification of neurosegmental lesion levels is based on an evaluation of muscle strength of individual muscle groups according to the Lovett scale.

The Capacity Profile: a method to classify additional care needs in children with neurodevelopmental disabilities.

The aim of this study was to determine the interrater reliability and stability over time of the Capacity Profile (CAP). The CAP is a standardized method for classifying additional care needs indicated by current impairments in five domains of body functions: physical health, neuromusculoskeletal and movement-related, sensory, mental, and voice and speech, in children from 3 to 18 years of age. The intensity of care in each domain is defined from 0 (no need for additional care) to 5 (needs help with every activity). The intensity of additional care in each of the five separate domains indicates the CAP for the individual child. We developed the CAP to inform the parents and other caregivers of children with non-progressive, permanent neurodevelopmental disabilities, such as cerebral palsy and myelomeningocele, about the consequences of these conditions. To determine interrater agreement and stability over time, the CAPs of 67 children (39 males, 28 females) with a neurodevelopmental disability (mean age 18y [SD 1.2y]; range 14-22y) were assessed based on a semi-structured interview. In addition, the CAPs of the same individuals at the age of 3 years were determined based on a chart review. Interrater agreement of the CAP at the age of 3 was good to very good (weighted kappa 0.64-0.92). Agreement between the CAP at the age of 18 and the CAP at the age of 3 (providing evidence for stability over time) was also good (weighted kappa 0.68-0.77), except for the domain 'physical health functions', about which agreement was relatively poor (0.47). We conclude that the CAP is a reliable instrument for classifying the additional needs of a child with a non-progressive, permanent neurodevelopmental disability. The preliminary evidence for the stability over time of such needs according to the CAP should be validated in a prospective study.

Clinical experience with the reciprocal gait orthosis in myelodysplasia.

Ambulation has always been difficult for patients with myelodysplasia; however, introduction of the reciprocal gait orthosis seemingly offered increased potential as an ambulatory aid. Review of 41 patients with myelodysplasia treated with the reciprocal gait orthosis revealed that 78% reached community or household ambulator status, a marked improvement over previous results with traditional hip-knee-ankle-foot orthoses.

Current considerations for myelomeningocele repair.

Important advances have been made in the reconstruction of myelomeningocele during the last few years. Techniques of closure that use diverse tissues available in the back range from very simple to very complex. Most of them have become essential to the plastic surgeon. To facilitate a more efficient interdisciplinary approach, recent advances in knowledge of the vascular anatomy of the skin and specific clinical surgical considerations concerning skin grafts, cutaneous flaps, and musculocutaneous flaps are reviewed. A topographical division of the lesion that will permit a methodologically adequate treatment plan for congenital defects in the back, specifically in the thoracic, thoracolumbar, and lumbosacral regions is suggested.

Cervical meningoceles and myelocystoceles: a unifying hypothesis.

The classification and embryogenesis of cystic cervical dysraphic lesions are discussed in the light of the authors' experience and review of the literature. It is felt that these lesions are best described as meningoceles or myelocystoceles, and the use of the term 'myelomeningocele' may be more confusing than clarifying. The authors hypothesize that the cervical meningocele and the myelocystocele are part of a spectrum of the same underlying developmental abnormality, namely limited dorsal myeloschisis, with the eventual abnormality depending on the presence or absence of associated hydromyelia.

Adolescents with myelomeningocele: activities, beliefs, expectations, and perceptions.

The Carnegie Council on Adolescent Development, USA has identified activities, beliefs, and perceptions critical for healthy development. The aim of this study was to measure the activities, beliefs and expectations, and perceived outcomes of adolescents with myelomeningocele. In this descriptive study, 66 adolescents with myelomeningocele, aged 12 to 21 years and functioning at grade level, completed a structured interview. Thirty-eight (58%) of the participants were female. The level of lesion was distributed as follows: 30% had thoracic level lesions, 32% had lumbar level lesions, 15% had lumbosacral level lesions, and 23% of the sample had sacral level lesions. Instruments used had both established reliability and validity (WeeFIM, Harter's Self-Perception Profile, Austin's Child Attitude Toward Illness Scale, and Snyder's Hope Scale, Adolescent Decision-Making Inventory, Adolescent Coping Scale) or were scales developed for this study (Adolescent Activities Inventory, Future Expectations Scale, Communication Efficacy, and Adolescent Self-Management and Independence Scale). Scale reliabilities ranged from 0.70 to 0.88. These participants, though hopeful and positive in their attitudes toward myelomeningocele and generally able to perform activities of daily living independently, are not engaging in the full range of adolescent activities (decision making, friendship activities, and household responsibilities) and achieving positive outcomes (self-management and job) necessary to make a successful transition to adulthood. This might explain why so many individuals with myelomeningocele are underemployed and are not living independently as young adults.

A new look at myelomeningoceles: functional level, vertebral level, shunting, and the implications for fetal intervention.

OBJECTIVE: Previous reports have suggested that 80% to 85% of patients who have a myelomeningocele (MMC) and undergo surgical repair after birth develop hydrocephalus and require the placement of a ventricular shunt. However, the rate of shunting as a function of spinal level is not well established. We sought to determine the distribution of postnatally repaired MMC lesions as characterized by both functional and radiologic assessment, as well as the incidence of shunting when patients were categorized according to these 2 methods. METHODS: A retrospective chart review of 297 patients who were born with open MMCs and followed in the spina bifida clinic at the Children's Hospital of Philadelphia was performed. The presence or absence of a shunt was determined for each patient. Functional spinal level was determined by the best-recorded neurologic examination and vertebral level by spine radiographs. RESULTS: The overall rate of ventricular shunting was 81%. The level of the lesion significantly affected the incidence of shunting, with more cephalad lesions correlating with higher rates. This was true both for functional and radiologic categorizations. A significantly higher shunt rate was found among patients with sacral lesions when categorized by radiologic rather than functional criteria. In 86% of patients, the functional level was found to be equal to or higher (worse) than the radiologic level. CONCLUSIONS: This study describes the natural history of ventricular shunting in MMC patients with relation to both radiologic and functional criteria. Fetal MMC closure is being performed in some centers in an attempt to decrease the incidence of shunting and to improve leg function in selected patients. The present data may serve as a comparison group and aid in the design and analysis of a prospective trial to assess the efficacy of this new procedure.

Intervenção fisioterapêutica na mielomeningocele / Physical therapy intervention in myelomeningocele

A mielomeningocele (MMC) é um defeito de fechamento do tubo neural, caracterizado pela falha na fusão dos arcos vertebrais, displasia medular e distensão cística das meninges, que contêm tecido nervoso em seu interior. O defeito acontece entre a terceira e quinta semana de vida intra-uterina e nem sempre é diagnosticada durante a gravidez, sendo responsável por 85 por cento dos casos de defeito do tubo neural (DFTN). A manifestação clínica mais óbvia da mielomeningocele (MMC) é a perda das funções sensoriais e motoras nos membros inferiores. O presente estudo demonstrou os resultados da fisioterapia em uma criança com MMC através da funcionalidade e da independência nas atividades de vida diária (AVDs), por meio de aquisições da capacidade de engatinhar e deambular com auxílio.

The myelomeningocele (MMC) is a failure on the neural tube closing, characterized by the flaw in the fusion of vertebral arches, medullary dysplasia and cystic distention of the meninges which contain nervous tissue in their interior. The defect occurs between the third and fifth week of intra-uterine life and not always is diagnosed during pregnancy. It is responsible for 85 percent of neural tube defect cases. The most obvious myelomeningocele clinical manifestations are: loss of sensory and motor functions of the lower limbs. The present study showed the results of physical therapy in a child with MMC through functionality and independence on daily life activities through acquisitions of the capacity of crawling and walking with assistance.

Evaluación de la talla en niños con mielomeningocele / Heigth evaluation in children with myelomeningocele

Introducción: El déficit de talla es frecuente en niños con mielomeningocele. El objetivo de este estudio fue evaluar la talla, proporciones corporales, peso y perímetro cefálico de estos pacientes y observar la correlación entre el déficit de talla y el nivel de lesión medular. Material y métodos: Se estudiaron 80 pacientes (35 varones) entre 0,1 y 18 años de edad. Las evaluaciones antropométricas se compararon con tablas de niños normales según sexo y edad. Se observó una tendencia a la presencia de talla baja en la población estudiada. Resultados: El 76,25 por ciento de nuestros pacientes presentaron una relación estatura sentada/estatura por debajo del percentilo 50. En la evaluación nutricional el 20 por ciento presentó sobrepeso (relación peso/talla mayor de 20 por ciento) y el 3,75 por ciento de los pacientes presentaron desnutrición (relación peso/talla menor de 20 por ciento). Se halló correlación inversa entre el puntaje Z de talla y el nivel de lesión medular. Conclusiones: La disminución de la talla fue producida por el déficit del crecimiento de los miembros inferiores y del tronco y el déficit de talla fue mayor cuando la lesión medular era más alta

Evaluación de la talla en niños con mielomeningocele / Heigth evaluation in children with myelomeningocele

Introducción: El déficit de talla es frecuente en niños con mielomeningocele. El objetivo de este estudio fue evaluar la talla, proporciones corporales, peso y perímetro cefálico de estos pacientes y observar la correlación entre el déficit de talla y el nivel de lesión medular. Material y métodos: Se estudiaron 80 pacientes (35 varones) entre 0,1 y 18 años de edad. Las evaluaciones antropométricas se compararon con tablas de niños normales según sexo y edad. Se observó una tendencia a la presencia de talla baja en la población estudiada. Resultados: El 76,25 por ciento de nuestros pacientes presentaron una relación estatura sentada/estatura por debajo del percentilo 50. En la evaluación nutricional el 20 por ciento presentó sobrepeso (relación peso/talla mayor de 20 por ciento) y el 3,75 por ciento de los pacientes presentaron desnutrición (relación peso/talla menor de 20 por ciento). Se halló correlación inversa entre el puntaje Z de talla y el nivel de lesión medular. Conclusiones: La disminución de la talla fue producida por el déficit del crecimiento de los miembros inferiores y del tronco y el déficit de talla fue mayor cuando la lesión medular era más alta (AU)