Case Report A Case of Cerebral Hypoxia with Co
Transkript
Case Report A Case of Cerebral Hypoxia with Co
J.Neurol.Sci.[Turk] Journal of Neurological Sciences [Turkish] 26:(1)# 18;079-082, 2009 http://www.jns.dergisi.org/text.php3?id=253 Case Report A Case of Cerebral Hypoxia with Co-existing Corpus Callosum Agenesis and Colpocephaly Manifesting as Mild Mental Retardation Sofia MOURGELA1, Sofia ANAGNOSTOPOULOU2, Antonios SAKELLAROPOULOS3, Irini GAZELOPOULOU4 1 Agios Savvas Anticancer Institute, Neurosurgical, Department, Athens, Greece 2University of Athens, Department of Anatomy, Athens, Greece 3“Atheneon B” Hospital, Pulmonary and Critical Care Medicine, Athens, Greece 4“Agia Sofia” Pediatric Hospital, Athens, Greece, Department of Anesthesiology, Athens, Greece Abstract This is the case of a 9-year old female patient who initially had been admitted in the pediatric hospital “Agia Sofia” as a newborn, because of severe brain hypoxia, due to persistent fetal circulation. Then, at the age of 3 years, she had been managed in the same hospital, because of an episode of febrile tonic-clonic spasms. Brain CT revealed total absence of the corpus callosum and colpocephaly. The clinical picture of the child is that of mild mental retardation accompanied by epileptic attacks, although the coexistent agenesis of the corpus callosum and colpocephaly. From this case, we conclude that these pathological entities may have no cumulative effect on the clinical picture of a patient when they coexist. Keywords: Cerebral hypoxia-corpus callosum agenesis-colpocephaly-mental retardation Hafif Mental Retardasyon ile Kendini Gösteren Serebral Hipoksi ile Korpus Kallosum Agenezi ve Kolposefalisi Olan Bir Olgu Sunumu Özet Yeni doğan olarak Agia Sofia çocuk hastanesine inatçı fötal dolaşıma bağlı gelişen ağır beyin hipoksisi nedeniyle kabul edilen şimdi 9 yaşında olan bir kız hastanın olgu sunumudur. Hasta 3 yaşında iken yine aynı hastanede febril tonik-klonik nöbetleri nedeniyle de tedavi altına alınmıştır. Beyin BT tetkiki korpus kallozumun total olarak agenezini ve kolposefaliyi gösterdi. Hastanın klinik tablosu hafif bir mental retardasyonla birlikte epileptik nöbetler şeklindedir ve bu durum korpus kallosum agenezi ve kolposefali olmasına rağmendir. Bu olguya bakarak biz birlikte görülen patolojik özelliklerin klinikte görülenler üzerinde kümülatif bir etkisi olmadığı sonucuna vardık. Anahtar Kelimeler: retardasyon Serebral hipoksi-korpus kallozum agenezi-kolposefali-mental hemispheres of the brain does not develop typically in utero, has been correlated with inherited genetic factors, prenatal infection or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, metabolic disorders and chromosome errors such as unequal chromosome x inactivation or deletion of INTRODUCTION Malformations of the corpus callosum are relatively common disorders(9), diagnosed sometimes accidentally presenting with a broad range of clinical manifestations and no unique prognosis(2). Agenesis of the corpus callosum which occurs when the band of tissue connecting the two 79 J.Neurol.Sci.[Turk] the short arm of Chromosome 1(9). Clinical features include mental retardation or cerebellar signs (intention tremor, poor coordination, speech ataxia) and psychiatric disturbances, ranging from normal to severe psychomotor function.(11) an episode of febrile tonic-clonic spasms. Tonic-clonic spasms were located mostly on the left side of her body, and were accompanied by visual fixation spasms of the right side of her mouth of ten minutes duration, and by high temperature. She underwent brain CT that revealed agenesis of the corpus callosum and colpocephaly. Colpocephaly is an abnormal congenital enlargement of the occipital horns of the lateral ventricles, which has been associated with learning disability, seizures, motor and visual abnormalities. There is evidence of genetic transmission, either X-linked or autosomal dominant(4). We describe a case of a 9-year-old female patient who underwent severe hypoxia during birth with concomitant agenesis of the corpus callosum and colpocephaly without evidence of genetic transmission. Although the coexistence of all these pathological entities the clinical picture was that of mild mental retardation. The recent clinical picture is that of an hyperactive girl, with normal somatometric parameters, mild mental retardation, inability to focus, satisfactory social communication and perception, speech disorder and epilepsy treated appropriately with anticonvulsive drug therapy. Examination results The physical examination revealed no pathologic findings no altered pain perception or sensitivity. The head circumference measurement was normal and no spinal abnormalities were observed. The results of all laboratory and genetic tests were normal. Thoracic plain x-rays revealed no further pathological findings. Ocular examination showed no edema in the eye funds. Brain CT scan revealed agenesis of the corpus callosum, pathologic dilatation of the occipital horns of the lateral ventricles (colpocephaly) and dilatation of the cerebellospinal cistern, without hemispheric hypoplasia. Gray matter was situated more medial than normal, relative to the position of the midline structures. CASE PRESENTATION Presentation This 9-year old female patient had been admitted to the outpatient department of the pediatric “Agia Sofia” hospital initially, as a newborn, because of severe hypoxia due to persistent embryonic circulation (patent ductus arteriosus). She was born by caesarian section after 37 weeks of gestation because of cardiac arrhythmia as fetus. A the age of 3 years she had been presented to the same hospital, because of Fig 1a, 1b: Brain CT-scans: agenesis of the corpus callosum and colpocephaly. 80 J.Neurol.Sci.[Turk] Fig 2a, 2b: Central location of gray matter masses other organ malformations, but was associated with colpocephaly and an enlarged cerebellospinal cistern (fig.1a, 1b). DISCUSSION Callosal dysgenesis implies a malformation of the corpus callosum originating in the embryogenesis of the telencephalon. The term ‘dysgenesis (malformation)' includes three distinct categories: agenesis (total absence), hypogenesis (partial formation), and hypoplasia (underdevelopment). The basis of this distinction relies on considerations about neural tube closure, formation and maintenance of the massa commisuralis inductive plate, and migration of the neuronal elements of the cerebral cortex responsible for the projection of the corpus callosum commisural fibers. These processes are somewhat interdependent in their expression resulting in a mosaic of callosal and cortical gray matter arrangement and hemispheric clinicoradiologic manifestations(7). Colpocephaly has a typical association with learning disability, seizures, motor and visual abnormalities. There are only two literature reports of genetically transmitted colpocephaly hypothesized in identical twins(4). In this case we have studied, there was not found evidence of genetic transmission neither for the corpus callosum agenesis nor for the colpocephaly. The child had no altered pain perception or sensitivity(6), no spinal dysraphism, no hemispheric abnormalities(8), and no abnormal head circumference(5). Although all three pathological entities, corpus callosum agenesis, colpocephaly and brain hypoxia, have been associated with developmental delay, learning disability, seizures, and motor abnormalities, what is promising for this child is that her dysfunction have not progressed over time. Furthermore, masses of gray matter on brain CT have adopted a more medial location relative to the midline structures (fig.2a, 2b), a finding that probably facilitates the development of extracallosal means of interhemispheric communication. Such reorganization of Mutations in the neural cell adhesion, which is necessary for the development of synaptic connections, cause an X-linked mental retardation syndrome, termed CRASH ( corpus callosum hypoplasia, mental retardation, aphasia, spastic paraplegia, and hydrocephalus)(10). Agenesis of the corpus callosum is accompanied by in many cases other of organ malformation(10). In our case corpus callosum agenesis was not associated with 81 J.Neurol.Sci.[Turk] brain regions and interconnections already is demonstrated for the visual cortex in callosal agenesis and colpocephaly(3). REFERENCES Aglioti S, Beltramello A, Tassinari G, Berlucchi G Paradoxically greater interhemispheric transfer deficits in partial than complete callosal agenesis. Neuropsychologia 1998 Oct; 36(10): 1015-24 2. Bedeschi MF, Bonaglia MK, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Ballotin U, Bresolin N, Bassi MT, Borgatti R. Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. Pediatr Neurol. 2006 Mar; 34:186-93 3. Bittar RG, Ptito A, Dumoulin SO, Andermann F, Reutens DC. Reorganisation of the visual cortex in callosal agenesis and colpocephaly. Journal of Clinical Neuroscience (2000) 7(1), 13-15 4. Cerullo A, Marini C, Cevoli S, Carelli V, Montagna P, Tinuper P Colpocephaly in two siblings: further evidence of genetic transmission. Dev. Med. Child. Neurol. 2000 Apr; 42(4): 280-282 5. Chen Chih-Ping; LIN Shuan-Pei ; CHIU NanChang ; Microcephaly with dysgenesis of corpus callosum and colpocephaly in the survivor after the first-trimester death of a monochorionic co-twin Prenatal diagnosis 2002, vol. 22, no7, pp. 634-636 6. Doherty D., Tu S., Schilmoeller K., Schilmoeller G. Health-related issues in individuals with agenesis of the corpus callosum Child: Care, Health and Development, Volume 32 Page 333-May 2006 7. Jinkins JR, Whitemore AR, Brandley WG MR imaging of callosal and corticocallosal dysgenesis AJNR Am J Neuroradiol. 1989 Mar-Apr; 10(2): 339-344 8. Kawamura T.; Nishio S.; Morioka T.; Fukui K. Callosal anomalies in patients with spinal dysraphism: Correlation of clinical and neuroimaging features with hemispheric abnormalities Neurological Research, Volume 24, Number 5, July 2002, pp. 463-467(5) 9. Njiokiktjien C Absence of the corpus callosum: clinicopathological correlations In: Ramaekers G, Njiokiktjien C, eds Pediatric Behavioral neurology vol. 3: The child's corpus callosum. Amsterdam: Suyi Publications, 1991; 235-250 10. Schmid RS, Pruitt WM, Maness PF A MAP KinaseSignaling Pathway Mediates Neurit Outgrowth on L1 and Requires Scr-Dependent Endocytosis The Journal of Neuroscience, June 1, 2000, 20(11): 4177-4188 11. Sivasankaran S., Ho NK, Knight L. De novo Interstitial Deletion of Chromosome 1p with Absent Corpus Callosum-A case report. Ann. Acad. Med. Singapore 1997; 26: 507-9 1. These findings may be correlated with the mild clinical picture this child has. The clinical observation that the symptoms of interhemispheric disconnection are much less severe in total callosal agenesis than in partial callosal agenesis or even than what is observed after surgical section of the corpus callosum(1). This may be of significant value in prenatal counseling. Correspondence to: Sofia Mourgela E-mail: sofiamou@otenet.gr Received by: 11 August 2007 Revised by: 24 January 2008 Accepted : 28 January 2008 The Online Journal of Neurological Sciences (Turkish) 1984-2009 This e-journal is run by Ege University Faculty of Medicine, Dept. of Neurological Surgery, Bornova, Izmir-35100TR as part of the Ege Neurological Surgery World Wide Web service. Comments and feedback: E-mail: editor@jns.dergisi.org URL: http://www.jns.dergisi.org Journal of Neurological Sciences (Turkish) Abbr: J. Neurol. Sci.[Turk] ISSNe 1302-1664 82