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An Unusual Scalp Lesion in a 15-Year-Old Girl: A Case Report.

OBJECTIVE: To present an unusual congenital malformation of the central nervous system. BACKGROUND: Neural tube defects (NTDs) are potentially serious congenital malformations. When undiagnosed in childhood, such lesions may later be mistaken for a variety of other soft tissue abnormalities. Athletic trainers should be aware of the clinical findings associated with NTDs and the potential for infection in the event of an injury, thus ensuring proper treatment for injured athletes and referral of any athletes with suspicious lesions. DIFFERENTIAL DIAGNOSIS: Atretic meningocele, hemangioma, lipoma, sebaceous nevus, dermoid cyst, scar tissue, aplasia cutis congenita, and hematoma. TREATMENT: The consulting pediatric neurosurgeon thought that repairing the atretic meningocele was only necessary if symptoms recurred and persisted. This young woman is at increased risk for having a child with an NTD and will benefit from high doses of folic acid early in a future pregnancy. UNIQUENESS: Typically, NTDs are diagnosed in infancy or early childhood. This case represents a young woman whose NTD was not properly diagnosed until adolescence. In addition, NTDs can be mistaken for a variety of other skin lesions. The location and appearance of an NTD are typically distinctive to the knowledgeable examiner. CONCLUSIONS: Although NTDs are unusual, athletic trainers should be aware of such pathologic conditions to avoid mistaking these lesions for traumatic sequelae and to identify those athletes who may need further evaluation to rule out a potentially serious condition.

Journal Article↗

[Influence of folic acid in primary prevention of neural tube defects].

OBJECTIVE: The aim of the study was to analyze the incidence of neural tube defects in Lublin Province between 1990 and 2000 after application of primary prevention with folic acid. MATERIAL AND METHODS: A total of 293,039 newborns were analyzed. RESULTS: Neural tube defects were diagnosed in 53 newborns. CONCLUSION: Reduction of frequency of meningocele was shown after application of primary prevention with folic acid in 1998. Meningoceles were most frequent in 1992 (1.32/1000) and in 1998 frequency of these defects was reduced and in 2000 was down to 0.62/1000 births.

Female↗

[Congenital bilateral dacryocystitis and craniofacial dysraphia].

It is presented the observation of a child of 8 years old having a bilateral congenital dacryocyst by the absence of the lacrimonasal duct and multiple facial malformations are: telorbitismus, frontal meningocele, some lesions determined by a craniofacial dehiscence (fissura 2-12) with paramedian dysraphia. The affection has been produced by a disturbance of embryogenesis that occurred during the V-VI intrauterine development weeks, by metrorrhagias and repeated hypoxia that determined a disturbance at the level of the welding frontal buds with meningocele, of the olfactive guttier and the mass of the ethmoid with telorbitism and arthresia of the lacrimal duct.

Child↗

Lateral sacral meningomyelocele as a gluteal swelling--an unusual presentation.

Paravertebral meningoceles are rare examples of craniospinal dysraphism. A young boy presented with a cystic swelling over left gluteal region with lumbosacral scoliosis. On exploration, he was found to have a laterally placed sacral meningomyelocele. The presence of an unusually located meningocele should be suspected when a paravertebral mass is associated with neurological deficit or deformity of the spine.

Buttocks↗

[Congenital lesions of the external nose].

Congenital lesions of the external nose appear during embryologic development. Their usual location is midline nasal area. The most common are dermoid cyst, glioma, encephalocele and meningocele. The histopatology confirms dermoid cyst in 60%. Diagnosis is based mainly on clinical examination of the patient. Computer tomography and magnetic resonance are useful to reveal the pathway of intracranial herniation or presence of associated anomalies of the cranial bones. A complete surgical removal of the lesion is the only effective treatment. In Plastic Surgery Clinic in Lodz, 20 patients 2-20 years old were operated between the years 1973-2004. Treatment consisted of simple surgical excision of the nasal lesion. The dermoid cyst was diagnosed in 55%. In 3 cases, where herniations were observed, a preparation and simple ligature was performed. The results of all operations were satisfactory. Congenital lesion of the external nose should be considered as dermoid cyst, glioma, encephalocele or meningocele. Complete excision is very important. Deformations of the nose after surgery are to be corrected after the facial skull growth process ends.

Adolescent↗

[Tethered cord syndrome of adult onset: report of a case and a review of the literature].

A 47-year-old female was admitted with complaints of spontaneous pain at the medial surface of the right thigh, and worsening of urinary incontinence and weakness of the legs. These phenomena had been noticed previously 20 years ago, and again 10 years ago, respectively. There was a scar like skin abnormality of 4 X 6 cm over the lumbosacral region. Compression on this region induced neuralgic pain around the anus radiating down to both legs. Neurologically, weakness of the legs, sensory impairment on the L2-S5 dermatomes and urinary incontinence were recognized. Plain X-P revealed spina bifida on the lower lumber and sacral vertebrae (L4-S1), where a low density mass was found by spinal CT. Metrizamide CT myelography and MRI disclosed medullaris to be low and the spinal cord to be elongated. There was a meningocele surrounded by subcutaneous lipoma at the caudal end of the spinal cord at L5 level. Upon operation, a meningocele containing neural elements and adherent to the intra and extra-dural lipoma was found protruding through the laminar defect. Lipoma was removed partially. The conus medullaris and cauda equina were freed from the surrounding tissue. Dural plasty using the Lyodura was made. Postoperatively, the pain disappeared and her gait disturbance and sensory impairment were significantly improved, but urinary incontinence remained unchanged. Fifty-six cases of tethered cord syndrome of adult onset were reviewed from the literatures. Clinical symptoms, etiologies of the tethering, surgical outcomes and factors causing symptoms were discussed.(ABSTRACT TRUNCATED AT 250 WORDS)

Female↗

[Post-traumatic L5-S1 root avulsion. Myelographic and x-ray computed tomographic study. Apropos of a case. Review of the literature].

A patient presented an avulsion of left L5-S1 roots, with S1 meningocele, following a road accident. Saccoradiculography and CT scan imaging, even without contrast, allowed identification of total lesion in a suggestive clinical context. The characters of the CT scan images are emphasized. Images showed also the presence of pseudo-meningoceles and absence of roots.

Adult↗

[Meningomyelocele with spinal cord cyst and internal hydrocephalus in a 9-month-old boy].

The authors describe a boy aged 9 months with open myelomeningocele which changed gradually into meningocele with spinal cord cyst. During treatment internal hydrocephalus developed requiring insertion of Pudenz-Heyer ventriculoatrial. valve. The treatment was successful. The case illustrates the succession of changes which may develop in myelomeningocele and the relationship between the state of internal hydrocephalus and the volume of meningocele and spinal cyst (cerebrospinal fluid production exceeding its resorption).

Cysts↗

Dysraphic lesions of the cervical spinal cord.

Cervical spina bifida, either occult or overt, is relatively uncommon. These lesions tend to be associated with other abnormalities of the central nervous system and spine. For the occult dysraphic lesions, a Klippel-Feil syndrome is a particular association, especially the type I variety. For the spina bifida cystica lesions, the more common associated features include a Chiari II malformation and hydrocephalus. Spina bifida cystica in the cervical region is different from the myelomeningocele of the lower spine and is characterized by two types of abnormalities: the myelocystocele herniating posteriorly into a meningocele and a meningocele with or without an underlying split cord malformation. In both the occult dysraphic states and spina bifida cystica, there is underlying tethering of the cervical spinal cord, which can cause late neurologic deterioration, and surgical treatment is indicated both for cosmetic reasons and to untether the spinal cord. Children with spina bifida cystica may have neurologic dysfunction that may not be evident at birth or in the first few months of life but may be identifiable as the child grows older. One needs to be cautious about providing too optimistic a prognosis with respect to neurologic dysfunction based on a neonatal examination and to recognize that the appearance of neurologic deficits may not indicate deterioration.

Cervical Vertebrae↗

[Spontaneous cerebrospinal fluid fistula in the tegmen tympani].

The author's experience with spontaneous cerebrospinal fluid (CSF) otorrhea from the tympanomastoid tegmen is based on the management of two clinical cases, the temporal bone histopathological findings in a third case suffering fatal meningitis and a review of the literature. Characteristically, the disorder occurs in otherwise healthy ears and is the consequence of embryogenic faults in the dura mater and adjacent tegmen. After years of exposure to physiologically normal CSF pressures, these faults may fistulize into the tympanomastoid compartment. The onset may be at any age, but is more common after age 40. About 20% of cases have a history of one or more bouts of meningitis. The site of the leak is characterized by one or more defects measuring 2-5 mm in the dura mater and adjacent bony plate, usually in the area of the petrous ridge. About 25% of defects are associated with small meningoceles or meningoencephaloceles. Computed tomographic and magnetic resonance imaging, as well as testing with fluorescein dye, provide confirming diagnostic data. Corrective surgery employs transmastoid exploration. After any existing meningoceles or meningoencephaloceles have been cauterized or amputated, small grafts of autogenous fascia or cartilage are used to plug defects found. The area is covered with temporalis fascia graft, reinforced by a pedicled muscle-fascia graft and, if needed to obliterate the mastoid cavity, a free graft of subcutaneous abdominal adipose tissue.

Aged↗

[The possibilities for the surgical treatment of neurogenic fecal incontinence in children].

Treatment of anal incontinence in children with a pathology of the distal portion of the spine is a serious problem. We observed 36 children aged from 3 to 6 years with the 3rd degree of fecal incontinence. Twenty patients had spina bifida, 12 had meningocele, 4 children had the following symptoms: disturbed formation of the arches, sacrum agenesia, deformity of the distal portion of the spine. The conservative treatment was effective but in children without concomitant neurological disorders (motor disorders of the lower extremities, disturbance of the perineum sensitivity). Great increase of the ano-rectal angle and decreased pressure in the anal canal were found in 12 patients with meningocele and in 4 children with severe defects of the vertebral column. They were subjected to operation of free transplantation of the preliminarily denervated muscle by the Hakelius method. Good effects were obtained in 10 cases of 12 operations.

Anal Canal↗

Optic nerve head swelling in the Hadju-Cheney syndrome.

The Hadju-Cheney syndrome is one of the idiopathic acroosteolyses. Associated neurologic abnormalities are often a result of progressive basilar invagination. A 48-year-old man with the Hadju-Cheney syndrome developed progressive bilateral visual loss. On examination, he had hyperopia, choroidal folds, optic nerve head swelling, and mild optic neuropathy. Computed tomographic scans showed massive enlargement of both intraorbital optic nerve sheaths. Improvement occurred after optic nerve sheath fenestration. Visual loss due to optic nerve meningocele can occur in the Hadju-Cheney syndrome. Optic nerve sheath fenestration can result in visual improvement. It is unclear whether the occurrence of optic nerve meningocele is causally or fortuitously related to the Hadju-Cheney syndrome.

Fundus Oculi↗

The Meckel syndrome in the Hutterites.

At least three cases of the Meckel syndrome have been identified in the Hutterites. Two of these were sibs and were studied during life; the other, a close relative, was diagnosed retrospectively by a review of hospital records. All parents were consanguineous. The phenotype ranged in severity from the association of occipital meningocele, cystic kidneys, postaxial polydactyly, and microphthalmia to a milder expression consisting of cystic kidneys, ocular defects apparent only on funduscopic examination, and a brain abnormality demonstrated by computer tomography. Survival ranged from 5 to 13 months. In one patient, the renal lesion was manifested as a tubular rather than a glomerular defect, and was probably not the primary cause of death.

Canada↗

Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect.

Neurologic abnormalities have been described only once previously in a child with Weissenbacher-Zweymüller syndrome (WZS), a rare skeletal dysplasia, evident neonatally. We report on identical twin male infants with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, mid face hypoplasia, and myopia. In addition, twin B had a parieto occipital encephalocele while twin A had a meningocele at the same location. Twin B has had significant delays in development and hearing loss.

Child, Preschool↗

Cerebro-reno-digital syndrome in two sibs.

We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.

Abnormalities, Multiple↗

Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad.

A family with autosomal dominant inheritance of sacral agenesis is described. Ten members were affected; four had associated presacral teratomas and anterior sacral meningoceles, giving rise to serious complications in three, including bacterial meningitis, local recurrence of teratoma and perianal sepsis. Three of those with presacral masses presented initially with anorectal anomalies. Other associated abnormalities included tethering of the cord, hydrocephalus, duplex ureter, hydronephrosis, vesicoureteric reflux, neurogenic bladder, bicornuate uterus, rectovaginal fistula and hereditary spherocytosis. Early diagnosis and surgical excision of a presacral mass is advised to prevent future morbidity and mortality.

Adolescent↗

Extraocular eye muscles in human fetuses with craniofacial malformations: anatomical findings and clinical relevance.

Anomalies of the extraocular muscles have been suspected to be present frequently in patients with craniofacial malformations. We studied the extraocular musculature in the orbits of 15 anencephalic human fetuses between the 5th and 10th months after gestation, and in one fetus with an occipital meningocele and a large defect of the left cranial base. The findings were compared to those in nine normal age-matched fetuses. All malformed fetuses exhibited special features of the levator palpebrae superioris muscle, either its absence, an anomaly of the muscle belly, or an anomalous insertion. In addition, deficient or aberrant muscle bellies of the oblique and rectus muscles were found. In anencephaly, the frontal bone is condensed, forming narrowed orbital cavities with hypotelorism. Frequent disturbance of extraocular muscle development in fetuses with craniofacial malformations is implicated. The presented specimens are examples of extreme variants of cranial and craniofacial malformation syndromes. Thus, similar findings of extraocular muscles might also be regularly found in clinically relevant craniofacial malformations. This would force new considerations about diagnostic and therapeutic approaches to patients with craniofacial malformations.

Anencephaly↗