A complete gonadal dysgenesis case with mental retardation, congenital hip dislocation, severe vertebra rotoscoliosis, pectus excavatus, and spina bifida occulta.

BACKGROUND: 46,XY, or Swyer syndrome, is a complete gonadal dysgenesis. Patients usually presents with primary amenorrhea with underdeveloped secondary sex characteristics. Phenotypes of these patients are female. In this report, a Swyer syndrome case is reported with novel clinical features that are classified as connective tissue disorders. This case and the 2 other previously reported Swyer syndrome cases with ascendant aortic aneurysm and diaphragmatic hernia are suggest that the Y chromosome has an important role in the structure of connective tissue. CASE: Here we report a case of a 17-year-old with clinical features of 46,XY complete gonadal dysgenesis including external female genitalia, hypoplastic uterus, hypergonadotrophic hypogonadism, incomplete secondary sex characterics, primary amenorrhea, and normal male karyotype. In addition, she had mild mental retardation, severe rotoscoliosis, pectus excavatus, spina bifida occulta, hip dislocation, and long, slender extremities. She had a rudimentary uterus and streak gonads; after giving her cyclic estrogen and progesterone pills, she was able to menstruate. SUMMARY AND CONCLUSION: In this report, a Swyer syndrome case was discussed regarding clinical features, especially those are not characteristic for Swyer syndrome after a review of the literature.

Coexistence of a human tail and congenital dermal sinus associated with lumbosacral lipoma.

CASE REPORT: We present a female baby with a human tail associated with congenital dermal sinus (CDS) at the caudal site of the tail. Magnetic resonance (MR) images with constructive interference in steady-state (CISS) sequencing clearly demonstrated a lumbosacral lipoma of caudal type, contiguous with the dermal sinus tract and not with the human tail. At 3 months old, the tail was surgically removed. The dermal sinus tract and contiguous lipoma were also resected, and untethering of the spinal cord was performed. Although both the human tail and CDS are frequently associated with spina bifida occulta, coexistence of the tail and CDS is exceedingly rare. CISS-MRI is useful for demonstrating the precise anatomical relationship between these complicated pathologies.

Ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome without ectrodactyly.

The ectodermal dysplasia, ectrodactyly, cleft lip/palate syndrome (EEC syndrome) is an autosomal dominant dysplasia syndrome, whose pleiotropic effects involve mainly ectodermal structures. The most common clinical manifestations are ectodermal dysplasia, ectrodactyly , cleft lip/palate, and tear-duct anomalies. Very rarely the ectrodactyly may be absent, and skeletal abnormalities may be subtle. We present a 44-month-old girl who had features of EEC syndrome but without the classic ectrodactyly.

Potential association between infertility and spinal neural tube defects in offspring.

BACKGROUND: We examined the possible association between infertility and spinal neural tube defects (NTDs). METHODS: This is a nested case-control study within the Kaiser Permanente Medical Care Program (KPMCP) in Northern California. Among a birth cohort of 110,624 singleton infants > or = 36 weeks gestation, 1994-1997, we electronically identified cases of spinal NTDs and confirmed the diagnosis by chart review. Controls (n = 1,608) were randomly selected from the birth population. History of infertility was defined as: (1) physician diagnosis of infertility; (2) prescription for an infertility medication noted in the KPMCP pharmacy; and/or (3) evaluation at 1 of 15 infertility clinics in Northern California. RESULTS: Eighteen infants diagnosed with spinal NTDs (prevalence 1.6/10,000) included 13 with spina bifida cystica and 5 with spina bifida occulta. Case mothers were more likely to have a history of infertility (4/18 vs. 96/1,608, OR 4.3, 95% CI 1.01-14.0), and to have been prescribed clomiphene citrate within the window spanning 60 days before to 15 days after conception (3/18 vs. 32/1,608, OR 11.7, 95% CI 2.0-44.8). CONCLUSION: This exploratory study suggests that infertility may be associated with an increased risk of spinal NTDs among liveborn, term infants.

Espina bífida. Presentación de una familia / Spina bifida. A family report

La espina bífida es un defecto de cierre del tubo neural considerado de etiología multifactorial, no obstante, en la literatura médica se han reportado escasas familias con un patrón de herencia autosómico dominante. En el presente trabajo, a partir de la interrupción de un embarazo, en el cual el feto presentaba raquisquisis lumbosacra, se estudiaron los padres y se detectó una espina bífida oculta de localización sacra en la madre. Comienza así el estudio de la familia materna, en la cual se encentraron otros familiares afectados y se demostró, al confeccionar el árbol genealógico, la existencia de un patrón autosómico de herencia dominante para esta entidad. Por todo lo anterior, se pone a consideración de otros especialistas esta presentación no habitual de espina bífida familiar

Spinal cord ultrasonography in children with myelomeningocele.

Secondary tethering of the spinal cord in people with myelomeningocele (MMC) is almost universal but there is a relatively low incidence of the secondary tethered cord syndrome (S-TCS). In view of this, we wish to explore the notion that cord pulsation, as demonstrated by ultrasound of the spinal cord, can become an independent measure for increased tension of the spinal cord in patients with MMC. One-hundred and six patients with MMC underwent ultrasonographic examination of their back, a thorough physical examination, and a careful review of their clinical history. Of these patients, 53 had MRI of their back. Cord pulsation was graded and the statistical relation between pulsation and various clinical and MRI findings was analysed. Age and arm span were not correlated with grades of cord pulsation. The absence of cord pulsation correlated with the presence of symptoms but this relation may be explained by MRI findings of certain structural cord malformations and not by tethering per se. Assuming that cord pulsation is a reliable marker for the tension within the spinal cord, the results of our study suggest that overstretching of the cord is not the main cause for the development of the S-TCS.

Paraplegia como manifestaçäo inicial de medula presa: relato de caso / Paraplegia as initial manifestation of tethered spinal cord: case report

A medula presa (MP) é entidade pouco frequente que ocorre quando há restriçao da migraçao normal do cone medular por cistos, lipomas ou disrafismos espinhais. Esta patologia pode levar a paraplegia, distúrbios sensoriais e esficterianos. Relatamos o caso de uma menina de 22 meses que consultou com quadro de paraplegia. O diagnóstico de medula presa foi confirmado pela mielotomografia e a paciente foi submetida à cirurgia para liberaçao do filo terminal.

[Lumbosacral intraspinal lipomas associated or not with a tethered cord syndrome (series of 8 cases)]. / Les lipomes intra-rachidiens lombo-sacrés associés ou non à un syndrome de la moelle attachée (série de 8 cas).

The authors report a surgical experience on eight case of intra spinal lipomas. These lumbo-sacral malformations belong to post-neurulation defect, in such conditions spinal cord undergoes tethering while child growing that lead to a slow neurological disturbance. Through this study, authors show that female is more involved than male (5/3. On 6 cases the diagnosis have been made before the age of 2 years old. Three groups of signs characterize dramatically intra spinal lipomas: skin-median lumbo-sacral stigmata (8 cases) such as hypertrichosis, nevi etc. neuro-orthopedic disturbance(3 cases): club foot, paraparesis. sphincter disturbance: vesical or anal incontinence. In the lack of C.T. scan and M.R.I. contrast medium myelography confirm the diagnosis. Surgical excision lead to characterization of 4 extra dural lipomas, one sub dural, and 3 mixed lipomas. 75% of the patient improved well. One dealing with this kind of pathology must avoid the misdiagnosis of enuresis.

Recurrent tethering: a common long-term problem after lipomyelomeningocele repair.

The authors reviewed the records of 94 patients who underwent initial repair of a lipomyelomeningocele between 1982 and July 1996 at the Children's Hospital of Pittsburgh to determine the incidence and time course of symptomatic retethering. In each of these patients, the initial operative goals were to microsurgically debulk as much of the lipoma as possible to allow the conus to move freely within the spinal canal, to divide any tethering arachnoidal adhesions, to close the pia if possible and to reconstitute a capacious thecal sac, using a dural graft if necessary. With a median follow-up of 58 months, 19 of these patients (20.2%) required 28 subsequent operations for symptomatic retethering. Median time between the initial procedure and reoperation for retethering was 52 months. The primary complaint of 12 patients was intractable low-back or leg pain. Other common symptoms were progressive bowel and/or bladder dysfunction, deterioration of motor function and foot deformities. The decision to reoperate was based predominantly on the clinical situation of the patient; magnetic resonance imaging was used to confirm the location and extent of tethering. Patients with transitional lipomas had a significantly higher frequency of symptomatic retethering than those with caudal or dorsal lesions (p < 0.05). No other clinical or technical feature correlated with an increased frequency of retethering. In particular, none of a variety of types of dural graft materials appeared to entirely prevent symptomatic retethering. Following reoperation, pain complaints resolved and many of the other symptoms improved partially or resolved completely. Although the long-term results were also favorable in the majority of patients, a small subgroup (n = 6) exhibited repetitive symptomatic tethering that proved increasingly difficult to treat. We concluded that symptomatic retethering is a common problem in children with lipomyelomeningoceles, even after an adequate initial operation. To date, no type of graft material has been shown to entirely prevent this problem. Close long-term surveillance of such patients is required to allow detection and treatment of symptomatic retethering.

The tethered spinal cord: diagnosis, significance, and management.

Tethered cord is the result of fixation of the spinal cord, which limits motion in the caudal-rostral direction. Most children either have cutaneous markers or a predisposing condition. Prophylactic release of the spinal cord can prevent the long-term disabilities associated with this condition. Although delayed release, following the onset of a neurological deficit, may reverse some lost function, it is unlikely to restore bladder and bowel function.

Tethered thoracic cord resulting from spinal cord herniation.

Tethered cord syndrome (TCS) usually involves tethering of the lower cord at the conus medullaris from dural abnormalities, but may occur after spinal cord herniation. A tethered thoracic spinal cord is rare. We present an unusual case of a 30-year-old woman with a history of myelopathy presumed to be secondary to T6 cord compression resulting from T6-T8 arachnoid cyst. She continued to deteriorate after partial excision of the cyst. Repeat magnetic resonance imaging suggested recurrence of the presumed arachnoid cyst with cord compression and showed tethering at T6-T8. Surgical exploration revealed myelocele with cord herniation through the anterior thoracic dura. Pathologic diagnosis showed neural tissue with gliosis. After physical therapy treatments, the patient had increased lower extremity strength, ambulated with a cane, and regained some bladder control. Progressive myelopathy may represent tethering of the cord resulting from cord herniation. Early recognition of TCS, even in patients with minimal neurologic deficits, could prevent progressive disability.

Magnetic resonance detection of myelodysplasia in children with Currarino triad.

PURPOSE: To evaluate the role of MRI in the detection of myelodysplasia in children with Currarino triad. MATERIALS AND METHODS: Six patients (two girls, four boys, aged 7 months-14 years, mean age 6 years) were studied with MRI, voiding cystourethrogram and barium enema or fistulography. CT and ultrasonography were also performed in two patients. RESULTS: All patients presented with partial agenesis of the sacrum. Three patients suffered from an intermediate form of anorectal malformation (ARM) and three had a high form of ARM. The presacral masses consistent with Currarino triad included anterior meningocoele in three patients, lipoma in two patients and anterior lipomeningocoele in one patient. MRI diagnosed tethering of the spinal cord in four of six patients. The tethering of the spinal cord was due to a lipomeningocoele in one patient, an intradural lipoma in one patient and a lipoma of the filum in two patients. CONCLUSION: The association of Currarino triad with tethered spinal cord seems more common than generally reported in the literature. Preoperative MRI of the lumbosacral spine is essential to detect significant myelodysplasia in all patients with Currarino triad.

Diastematomyelia and spina bifida can be caused by the intraspinal grafting of somites in early avian embryos.

OBJECTIVE: In this experimental study, an embryological model was created to reproduce diastematomyelia and spina bifida and to investigate new aspects of the origin of spinal cord malformations. METHODS: A somite was implanted from a donor quail embryo into the neural tube of a 2-day-old chick embryo. The somite was chosen because the septum that characteristically separates the two hemicords consists exclusively of mesodermal derivatives. RESULTS: After 2 days of reincubation, diastematomyelia, spina bifida, or a normal embryo without a graft was observed. If the graft persisted in the neural tube, it formed a septum between the floor and roof plates but never made contact with the lateral walls of the tube. Otherwise, the graft was extruded from the neural tube. In this case, the quail cells often were found in dorsal or dorsolateral positions in the surrounding tissue. Sometimes, the wall of the neural tube formed an extrusion in the direction of the eliminated graft. On many occasions, however, spina bifida aperta was produced and no quail cells could be found in the host. CONCLUSION: The results suggest that diastematomyelia may be the result of abnormal mesodermal invasion of the neural tube. The development of a septum in the neural tube after implantation of a somite may mimic the process during spontaneous diastematomyelia formation, which could be the consequence of abnormal gastrulation, the process by which the two early germ layers of the blastodisc are converted into the three definitive germ layers.

[Urological assessment for tethered cord syndrome of delayed onset following repair of meningomyelocele].

UNLABELLED: PURPOSE AND MATERIALS: Out of 84 patients with meningomyelocele repaired at birth, 14 (15. 7%) children (6 boys and 8 girls, average 8.8 year-old) who underwent cord untethering for tethered cord syndrome of delayed onset (Delayed TCS) were urologically evaluated. RESULTS: Eleven (78.5%) children were detected orthopedically by deterioration of lower extermities function and only 3 (21.5%) were detected urologically. Preoperative urodynamic study, however, revealed in 5 children aggravation of urinary tract dysfunction, including accelerated uninhibited contraction in 4, impaired bladder compliance in 3, decreased bladder capacity in 2 and recurrence of VUR in 1. Although there were no particular urinary symptom for detection of Delayed TCS, acceleration of uninhibited contraction seemed to be one of the most important findings. After untethering, deterioration or normalization of urological dysfunction was not seen. Six of 14 children had favorable clinical results, such as improvement of uninhibited contraction, increasing of bladder compliance and capacity, prolongation of dry time and disappearance of VUR. In 3 children Delayed TCS were detected by postoperative improvement of urinary tract function. Consequently, of 14 children who were evaluated preoperatively and postoperatively 8 (52. 7%) had urological impairment compatible with Delayed TCS. CONCLUSIONS: It is not easy to detect the urological deteriorations associated with Delayed TCS behind initial neuro-urological deficits. Careful and regular follow-up examinations are required to early detection of Delayed TCS. The fact that urinary tract dysfunction improved in some cases after untethering encourages aggressive surgical untehtering of Delayed TCS.

Increased incidence of spina bifida occulta in fluorosis prone areas.

Spina bifida, a congenital deformity of the posterior wall of vertebrae of the spine, is a midline defect of skin, vertebral arches and neural tube, usually in the lumbosacral region. Its incidence is reported to be 0.2 to 0.4 per 1000 live births. Various hypotheses have been put forward as etiological factors for spina bifida including consumption of potato affected by blight and hardness of drinking water but these have not been proven. Two groups of 50 randomly chosen children were established. The study group consisted of children aged 5 to 12 years, weighing 15 to 30 kg, consuming fluoride rich drinking water (4.5 and 8.5 ppm fluoride; WHO permissible limit is 1.5 ppm fluoride), and manifesting either clinical, dental and/or skeletal fluorosis. The control group consisted of age and weight-matched children, consuming less than or equal to 1.5 ppm fluoride in drinking water and not showing any evidence of fluoride toxicity. These children were evaluated for antenatal history, general clinical examination (especially for dimples, tufts of hair, haemangioma on skin throughout the length of spine), other congenital abnormalities, evidence of fluoride toxicity, biochemical estimation for fluoride levels in blood and serum and by skiagrams of the spine to examine for the presence of spina bifida occulta. A total of 22 (44%) of the 50 children in group A, the study group, and 6 (12%) of the 50 children in group B, the control group, revealed spina bifida occulta in the lumbosacral region.(ABSTRACT TRUNCATED AT 250 WORDS)

Congenital dermal sinus associated with an abscessed intramedullary epidermoid cyst in a child: case report and review of the literature.

A 16-month-old male infant presented with paraparesis and a high thoracic skin dimple. After myelography the child underwent complete surgical removal of the dermal sinus and of an abscessed tumor located within the cervicothoracic cord. Histological study showed that the lesion was an intramedullary epidermoid cyst. Only four descriptions have previously been published of dermal sinuses associated with intramedullary epidermoids, three of them complicated by intramedullary abscesses. This appears to be the first report in the current literature of the association of a dermal sinus and an infected intramedullary epidermoid occurring out of the confines of the lumbosacral region.