Spinal muscular atrophy of the scapulo-peroneal-type

A case report is given on a non-familial muscular atrophy with scapuloperoneal distribution in an 8 year old boy. A muscle biopsy and electromyographic studies indicated a neurogenic lesion. Spinal muscular atrophy appears to be the most probable diagnosis. Similar cases cited in the literature are compared with the present case. The differences to spinal muscular atrophy of the Kugelberg-Welander type are pointed out.

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Zusammenfassung Es wird über einen Fall von spinaler Muskelatrophie mit scapulo-peronealer Verteilung bei einem 8jährigen Jungen berichtet. In der sehr gründlich erhobenen Familienanamnese fand sich kein Hinweis auf eine ähnliche Erkrankung bei den Vorfahren, so daß es sich ähnlich wie eine von Emery beschriebene Beobachtung um einen Einzelfall handelt.Die Diagnose wurde auf Grund der neurologisch-klinischen Befunde sowie den Ergebnissen von Muskelbiopsie und EMG gestellt. Differentialdiagnostisch läßt sich die spinale Muskelatrophie vom scapulo-peronealen Typ gegen die von Kugelberg u. Welander beschriebene Amyotrophie abgrenzen.

     

Acute flaccid paralysis in a patient with sacral dimple

Sacral dimples are the most common cutaneous anomaly detected during neonatal spinal examination. Congenital dermal sinus tract, a rare type of spinal dysraphism, occurs along the midline neuraxis from occiput down to the sacral region. It is often diagnosed in the presence of a sacral dimple together with skin signs, local infection, meningitis, abscess, or abnormal neurological examination. We report a case of acute flaccid paralysis with sensory level in a 4 mo old female infant with sacral dimple, diagnosed by magnetic resonance imaging to be a paraspinal subdural abscess. Surgical exploration revealed a congenital dermal sinus tract extending from the subdural abscess down to the sacral dimple and open to the exterior with a minute opening.     

Congenital spinal lipomas — Tumor versus hamartoma

Congenital spinal lipomas as a form of dysraphism are frequently reported in literature. A few studies have highlighted their histologic features and found them different from lipomas in other parts of the body. In a review of eight cases of spinal lipomas, we found heterotopic tissue in seven. Neural tissue, muscle, bone and cartilage were frequently encountered. The presence of meningothelial cells in one case was an unusual finding. These findings support the concept of their hamartomatous origin. Malignancy, occurring later in life in one of the heterotopic elements is known, though uncommon, and is one of the reasons, besides neurologic deficit, for long term follow-up.     

Paraparesis secondary to a spinal mass as the presenting feature of erythroleukaemia in a 10-month-old child

Severe neurological impairment as the first symptom of acute leukaemia is a rather uncommon finding. We report the case of a 10-month-old infant who presented with acute paralysis of the lower extremities due to cord compression by an epidural tumour composed of malignant erythrocyte precursor cells. Diagnosis of erythroleukaemia (EL) was made by needle biopsy of the spinal epidural mass and confirmed by bone marrow aspiration. Antileukaemic treatment in combination with radiotherapy to the epidural tumour led to haematological remission and neurological recovery with disappearance of the mass lesion as demonstrated by MRI. However, haematological relapse occurred with death of the patient 7 months after diagnosis. This is the first reported case of EL presenting with paraparesis due to an epidural tumour. The clinical symptoms, results of cytogenetic and immunological studies and the clinical course are described.     

A schematic approach to hypotonia in infancy

Hypotonia may be the presenting sign for many systemic diseases and diseases of the nervous system. The present paper discusses a rational, simple and accurate diagnostic approach to hypotonia in infancy, illustrated by the case of a five-month-old infant girl recently referred to the IWK Health Centre in Halifax, Nova Scotia. Key points in the history and physical examination are outlined to allow a tailored investigation both for the patient and for other hypotonic infants. A discussion of an important neuromuscular disease, diagnosed in the present patient, concludes the paper.     

小儿脊髓纵裂诊疗分析

目的探讨小儿脊髓纵裂的临床特点及治疗方法。方法回顾性分析2001年1月至2011年5月作者收治的9例脊髓纵裂患儿临床资料,年龄2个月至6岁,平均年龄17个月。出现症状时间平均7个月。临床表现有背侧中线皮肤病损7例,脊柱畸形4例,下肢功能障碍及畸形4例,排尿障碍6例,排便障碍5例,下肢疼痛1例。6例术前经CT或MRI检查确诊,3例为术中发现。Pang分型：Ⅰ型6例,Ⅱ型3例。所有病例均合并终丝栓系,合并其它脊髓畸形6例,包括脊髓脊膜膨出2例,脊髓脂肪瘤3例,皮样囊肿1例。所有病例均行手术治疗,切除脊髓分隔,同时解除合并的其它脊髓栓系畸形。结果9例患儿中,5例痊愈,所有神经症状消失,3例显著改善,1例好转,无症状加重及无效病例。结论小儿脊髓纵裂多合并其它脊髓畸形,临床表现不典型。早期诊断、早期治疗是提高疗效的关键。     

Non-enhancing pilocytic astrocytoma of the spinal cord

Pilocytic astrocytomas are among the most common intramedullary spinal cord tumors in the pediatric age group. The presence of contrast enhancement is a major factor used to distinguish these tumors from other spinal cord lesions. We present a case of histologically proved non-enhancing intramedullary spinal cord pilocytic astrocytoma in a 12-year-old girl. This case represents an exception to the conventional wisdom that pediatric spinal neoplasms enhance with administration of intravenous contrast material.     

Nontraumatic acute and subacute enhancing spinal epidural hematoma mimicking a tumor in a child

We describe a 10-year-old boy who presented with acute onset of neck pain and neurologic symptoms caused by a spinal epidural hematoma. An enhancing mass, which mimicked a tumor, was seen on MR imaging of the cervical spine. The uptake of gadolinium in the mass and the associated mass effect suggested a tumor etiology. Such spinal epidural hematomas are extremely rare in the pediatric population. Additionally, it is even more uncommon for spinal epidural hematomas to resemble tumors. It is important to consider this entity when an enhancing epidural mass is found on MRI in the setting of an acute presentation.     

Granulocytic sarcoma of the spine in a child without bone marrow involvement: a case report and literature review

We report a 2-year-old Japanese boy without bone marrow involvement who developed a primary granulocytic sarcoma in his spinal canal. Tumour cells were positive for myeloperoxidase, MIC2, CD56 and, CD68 on formalin-fixed, paraffin-embedded tissue sections and CD13, CD33, CD45, and CD64 on acetone-fixed fresh frozen sections. Nine months after the initiation of treatment, the tumour had significantly regressed and the patient was able to walk with help. Conclusion:Our patient is the youngest case of granulocytic sarcoma of the spine without bone marrow involvement. Immunohistochemical methods are very helpful in establishing a diagnosis of granulocytic sarcoma.     

A case report: Paediatric surfer's myelopathy

Surfer's myelopathy was first described by Thompson et al., in 2004.¹ It is a rare cause of sudden spinal cord injury that occurs in the absence of direct trauma to the spinal area in novice healthy surfers. We present the case of the youngest patient we are aware of to be diagnosed with surfer's myelopathy following actual surfing. A clear aetiology for surfer's myelopathy has not previous been described. However, the hypothesis that there is ischaemia to the lower spinal cord is supported by our case, where we present the first clear angiographic evidence of the occlusion of the great anterior radicular artery of Adamkiewicz in a patient diagnosed with surfer's myelopathy.     

A Case of Mixed Bacterial Meningitis Associated with a Congenital Spinal Epidermoid

A case of mixed bacterial meningitis with congenital spinal epidermoid is reported. E. coli and S. faecalis were isolated simultaneously from the cerebrospinal fluid of a 14-month-old girl who had a continuing fever for 5 days. The clinical response was very poor, whereas bacteria detected showed high sensitivity in vitro to the antibiotics used clinically. Thus a myelography and a CT scanning of the lumbosacral region were performed one month after admission, when a spinal epidermoid was forced, containing an abscess connected to a thin dermal sinus which could not be recognized macroscopically. The patient recovered completely after surgical treatment.     

Spinal cord compression by vertebral hemangioma

Asymptomatic vertebral hemangiomas occur frequently in adults but the discovery of a similar lesion in the pediatric age group is uncommon. A case which involves all the neural arch components with resultant spinal cord compression is rare and is reported with a review of pertinent literature.     

Acute paediatric paraplegia: A case series review

Paediatric paraplegia resulting from spinal cord pathology of any cause is rare; hence prognostic information for children less than 16 years is limited. This case series review aims to ascertain all cases of paediatric paraplegia from 1997 to 2012 in the former Northern Region of England.MethodsChildren presenting with sudden paraplegia before the age of 16 years were multiply ascertained from databases in the regional paediatric neurology, neuroradiology, neuro-oncology and adult spinal injuries units. Data were obtained from retrospective case note review.ResultsA total of 44 cases (24 female) were identified. The incidence is estimated at 0.49 per 100,000 children under 16/year (95% confidence interval 0.41–0.57). Mean age of onset was 8.8 years and the most common aetiology was inflammatory. Twelve months post presentation, mortality was zero and a good outcome (defined as Gross Motor Function Classification System grades I or II) was seen in 66.6%. Motor outcome at 12 months was associated with the presence of bladder/bowel signs at presentation, previous viral illness and initial severity of paraplegia. Bladder signs at presentation were the strongest predictor of prognosis (OR for poor motor outcome 10.3). We were unable to demonstrate a relationship between aetiology and late outcome.ConclusionPaediatric paraplegia is rare. Mortality rates are low and 66.6% have a good outcome with fully or nearly independent walking. Bladder signs are the strongest predictor of prognosis.     

Functional outcome after traumatic cervical spinal cord injury is superior in adolescents compared to adults

Objective

Determining differences in neurological and functional outcome between adolescents and adults after acute traumatic spinal cord injury (SCI).

Roentgen findings in fractures of the vertebral column in childhood Examination of 35 patients and its results

In the past 10 years we examined 35 children with fractures of the spine. The most important cause was an injury by a fall from a tree or a climbing stage (23 cases). Traffic accidents or other direct trauma was the cause in 10 patients. Two children had tetanus. The ages of the children range from 2 to 12 years. Clinical symptoms may be diagnostic of vertebral trauma, but quite often symptoms are insignificant or atypical. We detected fractures in every vertebra of the thoracic and lumbar part of the spine. The greatest number of fractures was found between T₄ and L₂. The typical injury of the spine is a compression fracture of the vertebral body with a wedgeshaped deformity (111 vertebrae); fractures of the transverse processus of lumbar vertebrae were not frequent (10 vertebrae). Other parts of the vertebrae were not involved. The value of scintigraphy in case of doubtful roent-genologic finding is pointed out.Presented at the 12th Annual Meeting of the European Society of Pediatric Radiology, Madrid, April 24–26, 1975     

脊柱侧弯合并脊髓纵裂136例的临床特征及骨嵴形态学分析

目的 探讨先天性脊柱侧弯合并脊髓纵裂骨嵴在椎管内的形态、节段、位置等形态学特点,提出新的纵裂分型方法,以期指导临床工作.方法 回顾性分析136例先天性脊柱侧弯合并脊髓纵裂患儿的临床资料以及CT、MRI等影像学检查结果.结果 Ⅰ型及Ⅱ型脊髓纵裂在胸腰段的发生率最高,腰段及胸段次之,颈段较少;Ⅰ型脊髓纵裂中椎管内骨嵴的发生节段以腰段最多,其次为胸腰段及胸段,颈段罕见.骨嵴以贯通型多见,存在腹侧型及背侧型,但数量较少.结论 先天性脊柱侧弯患者常合并脊髓纵裂畸形,完善术前CT及MRI等影像学检查有助于更好地了解脊髓纵裂及骨嵴的形态特点,根据骨嵴在椎管内背侧、腹侧或是否贯通进行分类,对脊髓纵裂的病情评估及手术方法 的选择有一定的指导意义.     

Spinal cord injury at birth: a hidden causative factor

A case of perinatally acquired spinal cord injury (SCI) is presented. The foetus was vigorous until birth, the breech presented and delivery was performed by a non-traumatic Caesarean section. The infant displayed symptoms of severe SCI but diagnosis was delayed due to severe co-morbidity. Diagnostic considerations are briefly reviewed. Ventilatory support was withdrawn at the age of 20 days when the infant had still not exhibited any respiratory effort or spontaneous movements. Autopsy revealed a serious congenital malalignment of the upper cervical vertebrae and at the histological examination extensive reactive changes were observed in the same area. To our knowledge such findings have not been published previously. CONCLUSION: In cases of serious perinatally acquired SCI, claim of malpractice is often apparent. In this case a hidden congenital malformation of the cervical vertebrae was revealed, highlighting the need of careful postmortem examinations in such cases.     

Spinal osteomyelitis caused by Proteus mirabilis in a child

 Osteomyelitis due to Proteus mirabilis is rare. Spinal osteomyelitis caused by this organism has only been described in adults. This is the first paediatric case of P. mirabilis vertebral osteomyelitis. Received: 4 June 1996 / Accepted: 1 July 1996     

Cervico-dorsal spinal enterogenous cyst

A case of a histologically proven ventrally situated spinal enterogenous cyst of cervico-dorsal region is reported with magnetic resonance (MR) imaging features. A brief review of literature on the subject is discussed.     

Anterior spinal cord infarction owing to possible fibrocartilaginous embolism

Anterior spinal artery syndrome is characterised by acute flaccid quadriparesis or paraparesis, disturbance of pain and temperature sensation, and loss of sphincter control. Fibrocartilaginous embolism is a rarely recognised, but important cause of spinal cord infarction. Fibrocartilaginous embolisation usually occurs after minor trauma without major bony lesions, typically with an intervening symptom-free interval and progressive stroke-in-evolution course. There is evidence that the embolus originates from the intervertebral disc, but the mechanism whereby disc fragments enter the spinal vessels is not well understood. We describe the evolution of MRI findings in a case of anterior spinal artery territory infarction thought to be secondary to fibrocartilaginous embolism.