1.Ancient schwannoma of the conus medullaris.
M N Saiful Azli ; I G Abd Rahman ; M S Md Salzihan
The Medical journal of Malaysia 2007;62(3):256-8
Cystic spinal or ancient schwannoma is a rare form of intradural tumour especially in the conus medullaris region. Due to its indolent behavior and benign course, the diagnosis of schwannoma is always a challenge and the imaging findings can be misleading. Our patient presented with chronic mild sciatica pain without any other neurological symptom. MRI of the spine showed intradural tumour located at the conus medullaris region with nerves compression and was reported as ependymoma. L3-L5 laminectomy and total excision of tumour was performed without any neurological complication. We concluded that ancient schwannoma of the conus medullaris is a rare benign tumour that can present with minimal non-specific neurological symptom that lead to misdiagnosis. Radical tumour excision is safe with an excellent outcome.
Conus medullaris
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Neurilemmoma
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symptoms <1>
;
Benign
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Excision
2.Cri-du-chat Syndrome: Application of Array CGH in Diagnostic Evaluation
Zarina AL ; Juriza I ; Sharifah Azween SO ; Azli I ; Mohd Fadly MA ; Zubaidah Z ; Chia WK ; Clarence Ko CH ; Julia MI ; Khairunisa K ; Sharifah Noor Akmal SH
Medicine and Health 2010;5(2):108-113
The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping
remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic
hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly
and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal;
however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal
imbalances.