Mirror Movements and Myelomeningocele: Report of A Single Case and Review of Literature

How to Cite This Article: IIbtihel Rébai I, Benrhouma H, Kraoua I, Drissi C, Ben Hammouda M, Gouider-khouja N. Mirror Movements and Myelomeningocele: Report of A Single Case and Review of Literature. Iran J Child Neurol. 2013 Summer;7(3):58-61. ObjectiveMirror movements (MM) have been described in several pathological conditions. Their association with neural tube defects is rare, and only 5 cases have been reported in literature to date. We report on a case of MM associated with cervical myelomeningocele, and we discuss the diffusion tensor imaging findings and the underlying mechanism. References1. Cohen LG, Meer J, Tarkka I, Bierner S, Leiderman DB,Dubinsky RM, et al. Congenital Mirror Movements. Abnormal organization of motor pathways in two patients. Brain 1991;114(Pt 1B):381-403.2. Rasmussen P. Persistent mirror movements: a clinicalstudy of 17 children, adolescents and young adults. DevMed Child Neurol 1993;35(8):699-707.3. Forget R, Boghen D, Attig E, Lamarre Y. Electromyographicstudies of congenital mirror movements. Neurology 1986;36(10):1316-22.4. Erdincler P. Cervical cord tethering and congenital mirrormovements: is it an association rather than a coincidence?Br J Neurosurg 2002;16(5):519–22.5. Odabasi Z, Gökçil Z, Kütükçü Y, Vural O, Yardim M.Mirror movements associated with cervical meningocele:case report. Minim Invas Neurosurg 1998;41(2):99–100.6. Erol FS, Topsakal C, Ozveren MF, Akdemir I, CobanogluB. Meningocele with cervical dermoid sinus tract presenting with congenital mirror movement and recurrent meningitis. Yonsei Med J 2004;45(3):568–72.7. Andrabi Y, Nejat F, El Khashab, Ashrafi MR. Mirror movement associated with neural tube defects. Neuropsychiatr Dis Treat 2008;4(6):1273–76.8. Avery LW, Rentfro CC. The Klippel–Feil syndrome. A pathological report. Arch Neurol Psychiat 1936;36:1068- 76.9. Gunderson CH, Solitaire GB. Mirror movements in patients with Klippel–Feil syndrome. Arch Neurol 1968;18(6):675–9.10. Tuch DS, Reese TG, Wiegell MR, Makris N, Belliveau JW, Wedeen VJ. High angular resolution diffusion imaging reveals intravoxel white matter fiber heterogeneity. Magn Reson Med 2002;48(4):577-82.11. Mamata H, Mamata Y, Westin CF, Shenton ME, Kikinis R, Jolesz FA, et al. High-resolution line scan diffusion tensor MR imaging of white matter fiber tract anatomy. AJNR Am J Neuroradiol 2002;23(1):67-75.12. Galléa C, Popa T, Billot S, Méneret A, Depienne C, RozeE. Congenital mirror movements: a clue to understandingbimanual motor control. J Neurol 2011;258(11):1911-9.

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.

3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder of serine biosynthesis. It is typically characterized by congenital microcephaly, intractable seizures of infantile onset, and severe psychomotor retardation. Diagnosis is suspected on decreased l-serine levels in plasma and cerebrospinal fluid (CSF) and confirmed by genetic study. Early diagnosis in index cases allows supplementation in serine and prevention of fixed lesions. Prenatal diagnosis and genetic counseling allows prevention of secondary cases. We report on the two first unrelated Tunisian families with 3-PGDH deficiency confirmed by biochemical and genetic study. We discuss clinical, biochemical, imaging, electroencephalographic, and therapeutic aspects and review the literature

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome