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Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele

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Hakan Timur at Yalova Üniversitesi
Hakan Timur
Cem Sanhal at Akdeniz University
Cem Sanhal
Aytekin Tokmak at Kirikkale University
Aytekin Tokmak
Huda Saad Kamil at Al-Mustansiriya University
Huda Saad Kamil
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Abstract

Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele, aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature. However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal diagnosis for TCD in a Turkish woman.
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Journal of Clinical and Diagnostic Research. 2015 Dec, Vol-9(12): QD05-QD06 55
DOI: 10.7860/JCDR/2015/16128.6987 Case Report
CASE REPORT
A 23-year-old woman, gravida 1, para 0, was referred to our
perinatology unit at 18 weeks' gestation for ultrasonography,
with the suspicion of cranial abnormality. Her personal and family
histories were unremarkable, and she had a nonconsanguineous
marriage. She did not report any medication use, had no history of
fever (with or without rash), ionizing radiation exposure during the
first trimester.
On grayscale sonography a bone defect at the occipital region and
a 24x23x17 mm encephalocele associated with the large posterior
fossa was detected [Table/Fig-1]. Mild lateral ventriculomegaly
(13 mm) and inferior vermian agenesis were the other findings.
Magnetic Resonance Imaging (MRI) of the fetal brain was requested
following genetic amniocentesis. Two weeks later, MRI revealed
that the tentorium and position of the torcular herophili were both
elevated [Table/Fig-2]. Tectal distortion and beaking were also
noted [Table/Fig-3]. Cavum septum pellucidum, corpus callosum
was normal and transcerebellar length was 22 mm. No other
congenital malformations were visualised. The prenatal diagnosis
was tectocerebellar dysraphia (TCD) with occipital encephalocele.
Based on the findings of TCD with occipital encephalocele in the
fetus by prenatal ultrasound screening and MRI, the parents were
informed about the anomalies. It was told that repeated surgical
interventions with poor prognosis may be required for the fetus,
and termination of the pregnancy was recommended. The couple
chose the termination of pregnancy after our counseling about
the postnatal prognosis of TCD. The use of vaginal prostaglandin
E1 analogue was successful for the pregnancy termination. A
female fetus weighing 340 gm, 17.5 cm in length was delivered.
The diagnosis was confirmed on the postmortem examination
and there was no karyotype anomaly (46, XX). At the autopsy,
a smooth surface, broad based, soft cystic mass about 2 cm in
diameter was detected in the back of the skull. When the sac was
incised, absence of the cerebellar vermis and partial absence of
the tectum, a large ventriculus quartus communicating with the
occipital menigocele sac and an occipital bone defect were noted.
The other parts of meninges and brain, cranial nerves and their
lengths were all in normal appearance. There were also no features
of facial dysmorphism and other congenital anomalies [Table/Fig-4].
The couple was counseled for future pregnancies to be evaluated
properly for the same condition.
DISCUSSION
Tectocerebellar dysraphia (TCD) was initially described by Padget
and Lindenberg in 1972 as 'inverse cerebellum with occipital
encephalocele' [1]. In 1978, Friede suggested a new clinico-
pathological entity apart from Dandy Walker syndrome and
constituted the term 'tectocerebellar dysraphia with occipital
encephalocele'. According to this definition encephalocele,
aplasia or hypoplasia of cerebellar vermis and tectal deformity are
Keywords: Cerebellar vermis, Deformity of tectum, Hypoplasia
Obstetrics and Gynaecology
Section
Prenatal Diagnosis of
Tectocerebellar Dysraphia with
Occipital Encephalocele
HAKAN TIMUR1, CEM Y SANHAL2, AYTEKIN TOKMAK3, KAMIL H MÜFTÜOGLU4, NURI DANISMAN5
ABSTRACT
Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele,
aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature.
However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal
diagnosis for TCD in a Turkish woman.
[Table/Fig-1]: Bone defect at the occipital bone and encephalocele (asterisk) associated with the posterior fossa. Inferior vermis is absent [Table/Fig-2]: Occipital encephalocele
(asterisk), elevated torcular herophili (arrowhead) and inferior vermian agenesis (arrow) on T2-weighted image of MRI [Table/Fig-3]: Tectal beaking (arrowheads) on T2-weighted
image of MRI.
Hakan Timur et al., Perinatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele www.jcdr.net
Journal of Clinical and Diagnostic Research. 2015 Dec, Vol-9(12): QD05-QD06
66
the main components [2]. A definitive cause for this entity is still
undefined. Encephalocele, as being one of the major components,
may point a failure in the closure of neural tube and neuropores
during embryogenesis around the days 33 to 44 of gestation [3,4].
Moreover, it was hypothetically suggested that TCD could be one
of the steps of the spectrum from Dandy-Walker malformations to
Chiari type II [1].
Beside the major components, TCD may be accompanied with
aplasia of mammillary bodies, fusion of thalami, anomalies of
cerebral gyral patterns, bifid atlas, bulky basal ganglia, cervical
hydromelia and congenital heart disease [1,2,5,6].
Unfortunately, the reported morbidity of TCD is extensive and
episodic tachypnea, irregular breathing, opsoclonus, ataxia, marked
hypotonia of the extremities, polydactyly, coloboma, unfavourable
neurologic development and perinatal-postnatal mortality could
be the clinical manifestations. The prognosis is usually poor
if hydrocephalus is severe [7,8]. On the other hand, excellent
neurological prognosis at the 4-year follow-up of a case with TCD
and solely vermian encephalocele was reported after the surgical
repair of a 5-month-old girl [9].
Like in TCD, occipital encephalocele was described as a component
of some other genetic syndromes. However, the triad of occipital
encephalocele, polycystic kidneys and postaxial polydactyly in
Meckel-Gruber, phocomelia, radial ray defects and urogenital
anomalies in Von Voss and agyria together with retinal dysplasia in
Walker Warburg syndrome enables the performance of the correct
differential diagnosis [10]. Recently, Poretti et al., investigated the
relation between TCD with occipital encephalocele and Joubert
syndrome [11]. They reported that similar findings as molar tooth
sign in MRI, absence of the midbrain decussation of the superior
cerebellar peduncles in colour-coded fractional anisotropy and
homozygous mutation within the TMEM237 gene may reveal that
TCD with occipital encephalocele may represent as a structural
manifestation within Joubert syndrome and related disorders
spectrum.
CONCLUSION
In conclusion, we want to emphasize that the prenatal diagnosis
of TCD with occipital encephalocele could be performed with
ultrasonography and MRI. The couple in this case report chose
the termination of the pregnancy because of the potential poor
prognosis due to the size of the encephalocele sac, inferior vermian
agenesis and ventriculomegaly. Every effort should be made in
the cases with occipital encephalocele for the accurate prenatal
diagnosis, counseling and management choices.
REFERENCES
Padget DH, Lindenberg R. Inverse morphogenetically related to Dandy-[1]
Walker and Arnold-Chiari syndromes: bizarre malformed brain with occipital
encephalocele. Johns Hopkins Med J. 1972;131:228-46.
Friede RL. Uncommon syndromes of cerebellar vermis aplasia. II: Tecto‐ cerebellar [2]
dysraphia with occipital encephalocele. Dev Med Child Neurol. 1978;20:764-
72.
Lemire RJ, Loeser JD, Lecch RW, Elsworth CA. Cerebellum in Normal and [3]
Abnormal Development of the Human Nervous System. Hagerstown, MD.
Harper and Row 1975:144-63.
Nakatsu T, Uwabe C, Shiota K. Neural tube closure in humans initiates multiple [4]
sites: evidence from human embryos and implications for the pathogenesis of
neural tube defects. Anat Embryol. 2000;201:455-66.
Naidich TP, Altman NR, Braffman BH, McLone DG, Zimmerman RA. Cephaloceles [5]
and related malformations. AJNR Am J Neuroradiol. 1992;13:655-90.
Krishnamurthy S, Kapoor S, Sharma V, Prakash A. Tectocerebellar dysraphia and [6]
occipital encephalocele: an unusual association with abdominal situs inversus
and congenital heart disease. Indian J Pediatr. 2008;75:1178-80.
Chowdhary UM, Ibrahim AW, Ammar AS, Dawodu AH. Tecto‐cerebellar dysraphia [7]
with occipital encephalocele. Surg Neurol. 1989;31:310-14.
Agrawal A, Joharapurkar SR, Khan AU. Tecto-cerebellar dysraphia manifesting [8]
as occipital meningocoele associated with congenital melanocytic nevi and
pectus excavatum. Iran J Pediatr. 2010;20:118-22.
Anik I, Koc K, Anik Y, Yildiz DK, Ceylan S. Tectocerebellar dysraphism with [9]
vermian encephalocele. J Child Neurol. 2010;25:1411-14.
Wininger SJ, Donnenfeld AE. Syndromes identified in fetuses with prenatally [10]
diagnosed cephaloceles. Prenat Diagn. 1994;14:839-43.
Poretti A, Singhi S, Huisman TA, Meoded A, Jallo G, Ozturk A, et al. Tecto-[11]
cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but
part of the Joubert syndrome spectrum? Neuropediatrics. 2011;42:170-74.
PARTICULARS OF CONTRIBUTORS:
1. Perinatology Assistant, Department of Obstetrics and Gynecology, Division of Perinatology, Health Research and Education Hospital, Ankara, Turkey.
2. Perinatology Assistant, Department of Obstetrics and Gynecology, Division of Perinatology, Health Research and Education Hospital, Ankara, Turkey.
3. M.D, Department of Obstetrics and Gynecology, Division of Perinatology, Health Research and Education Hospital, Ankara, Turkey.
4. Pathology Specialist, Zekai Tahir Burak Women's, Department of Obstetrics and Gynecology, Division of Perinatology, Health Research and Education Hospital,
Ankara, Turkey.
5. Perinatology Specialist, Assoc. Prof, Zekai Tahir Burak Women's, Department of Pathology, Division of Perinatology, Health Research and Education Hospital,
Ankara, Turkey.
NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR:
Dr. Hakan Timur,
(Institutional): Talatpasa Boulevard, No:75, Hamamönü, Altındag,
06230 Ankara, Turkey.
E-mail : drhakantimur@gmail.com
FINANCIAL OR OTHER COMPETING INTERESTS: None.
Date of Submission: Aug 07, 2015
Date of Peer Review: Sep 29, 2015
Date of Acceptance: Oct 11, 2015
Date of Publishing: Dec 01, 2015
[Table/Fig-4]: (a) Autopsy denoting encephalocele. (b) Inferior vermian agenesis
(arrow)
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Uncommon Syndromes of Cerebellar Vermis Aplasia. II: Tecto‐cerebellar Dysraphia with Occipital Encephalocele
Article
  • Jan 1979
Two new cases are reported of a rare syndrome of malformations consisting of occipital encephalocele, aplasia of the vermis and deformity of the tectum. Less consistent components are aplasia of mammillary bodies, fusion of thalami, anomalies of cerebral gyral patterns, bifid atlas or bifid occipital squame, elevation of torcular, and cervical hydromyelia. One of the present cases had survived to the age of eight years with a ventricular shunt. This syndrome, of which five cases are known, is thought to be a tandem malformation in which either an occipital dysraphia or an encephalocele induces aplasia of the vermis. A classification of aplasias of the cerebellar vermis is proposed. RÉSUMÉ Syndromes inhabituels d'aplasie du vermis cérébelleux. II: Dysraphie de la valvule de Vieussens avec encéphalocèle occipital Les auteurs rapportent deux nouveaux cas d'un syndrome malformatif rare avec encéphalocèle occipital, aplasie du vermis et déformation de la valvule de Vieussens. L'un des cas présentés a survécu jusqu'à l'âge de huit ans avec un shunt ventriculaire. Les auteurs pensent que le syndrome, dont très peu de cas ont été décrits, est lié à une malformation en tandem, la dysraphie ou l'encéphalocèle occipital provoquant l'aplasie du vermis au cours de son développement. Une classification des aplasies du vermis cérébelleux est proposée. ZUSAMMENFASSUNG Seltene Syndrome mit Aplasie des Vermis cerebellaris. II: Dysraphie des Tectum cerebellare mit occipitaler Encephalocele Zwei neue Fälle eines seltenen Missbildungssyndroms mit occipitaler Encephalocele, Aplasie des Vermis cerebellaris und Deformierung des Tectums werden beschrieben. Einer der beiden Fälle hatte bis zum achten Lebensjahr mit einem ventrikulären Shunt überlebt. Das Syndrom, von dem bisher nur sehr wenige Fälle beschrieben worden sind, wird als eine Missbildung angesehen, bei der eine occipitale Dysraphie oder Encephalocele eine Aplasie des Vermis in seiner Anlage hervorruft. Eine Klassifikation der Aplasien des Vermis cerebellaris wird vorgeschlagen. RESUMEN Sindromes poco corrientes de la aplasia del vermis cerebeloso. II: Disrafia tectocerebelosa con encefalocele occipital Se aportan dos nuevos casos de un sindrome raro con malformación consistiendo en una encefalocele occipital, aplasia del vermis y deformidad del tectum. Uno de los casos ha sobrevivido hasta la edad de ocho años con una derivación ventricular. El síndrome, de los cuales muy pocos casos se han descrito, se piensa que se trata de una malformación en tandem en la cual una disrafia occipital o encefalocele induce a una aplasia de vermis en su inicio. Se propone una clasificación de las aplasias del vermis cerebeloso.
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Uncommon Syndromes of Cerebellar Vermis Aplasia. I: Joubert Syndrome
Article
  • Jan 1979
Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea, abnormal eye‐movements, ataxia and retardation). The findings consisted of an almost total aplasia of the cerebellar vermis; dysplasias and numerous heterotopias of cerebellar nuclei; an almost total absence of pyramidal decussation; and anomalies in the structure of the inferior olivary nuclei, the descending trigeminal tract, solitary fascicle and of the dorsal column nuclei. The lesion resembled the Dandy‐Walker malformation or simple aplasia of the cerebellar vermis in some of its aspects, but there were numerous others to set it apart—at least tentatively—as a distinct nosologic entity. RÉSUMÉ Syndromes inhabituels d'aplasie du vermis cérébelleux. I: syndrome de Joubert L'article rapporte des données d'autopsie sur un cas de syndrome de Joubert (aplasie familiale du vermis cérébelleux avec hyperpnée épisodique, mouvements oculaires anormaux, ataxie et retard mental). Ces données comprennent une aplasie presque totale du vermis cérébelleux, des dysplasies et de nombreuses hétérotopies des noyaux cérébelleux; une absence presque totale de décussation pyramidale et des anomalies dans la structure de l'olive inférieure, du faisceau trigéminal descendant, du faisceau solitaire et des noyaux de la colonne dorsale. La lésion ressemblait à la malformation de Dandy‐Walker ou aplasie simple du vermis cérébelleux par certains aspects mais elle s'en écartait par de nombreux autres, permettant au moins à titre d'essai de définir une entité nosologique distincte. ZUSAMMENFASSUNG Seltene Syndrome mit Aplasie des Vermis cerebellaris. I: Joubert Syndrom Ein fall mit Joubert Syndrom (familiäre Aplasie des Vermis cerebellaris mit episodischer Hyperpnoe, abnormen Augenbewegungen, Ataxie und Retardierung) wird im Autopsiebefund beschrieben. Die Befunde bestanden in fast totaler Aplasie des Vermis cerebellaris, Dysplasien und zahlreichen Heterotopien von cerebellären Kernen, in fast totalem Fehlen der Pyramidenbahnkreuzung und Anomalien in der Struktur des Nucleus olivaris inferior, im absteigenden Trigeminusast, im Solitärfaszikel und in den Kernen des Hinterstranges. Die Läsion ähnelte der Dandy‐Walker Missbildung oder der einfachen Aplasie des Vermis cerebellaris in einigen Punkten, jedoch sprachen zahlreiche weitere Aspekte dafür, das Joubert Syndrom als eine besondere nosologische Einheit von diesen zumindestens versuchsweise abzugrenzen. RESUMEN Síndromes infrecuentes de aplasia del vermis cerebeloso. I: Síndrome de Joubert Se aportan los hallozgos en la necropsia de un caso de síndrome de Joubert (aplasia fascicular del vermis cerebeloso por hiperpnea episódica, movimientos anómalos del ojo, ataxia y retraso). Los hallazgos consistían en una aplasia casi total del vermis cerebeloso; displasias y heterotopias numerosas de los núcleos cerebelosos; y ausencia casi total de la decusación de las piramides; y anomalías en la estructura de los núcleos olivares inferiores, el tractotrigeminal descendente y el fasciculo solitario y de los núcleos de la columna dorsal. La lesión parecía una malformación de Dandy‐Walker o una aplasia simple del vermis cerebeloso en algunos de sus aspectos, pero había otros numerosos aspectos que lo colocaban aparte (por lo menos de momento) como una entidad nosológica distinta.
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Tecto-cerebellar dysraphia with occipital encephalocele
Article
  • May 1989
  • SURG NEUROL
We report four cases with the rare syndrome of tecto-cerebellar dysraphia with occipital encephalocele. The clinical features seen in these patients included episodic tachypnea and irregular breathing, opsoclonus, ataxia, marked hypotonia of the limbs, coloboma, and polydactyly. All four patients had midline occipital encephalocele. The cranial computed tomography scan showed partial to total agenesis of the vermis with a large communication between cisterna magna and the fourth ventricle. The computed tomography scan also showed partial deficiency of the midbrain tectum. We discuss the clinical and radiological findings and review the literature.
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Inverse cerebellum morphogenetically related to Dandy-Walker and Arnold-Chiari syndromes: Bizarre malformed brain with occipital encephalocele
Article
  • Oct 1972
  • Johns Hopkins Med J
Autopsy details of the brain spinal cord and skull are described for a microcephalic infant followed for 8 mth in a chronic hospital after postnatal excision of a high encephalocele. A rare ventral malposition of the cerebellar hemispheres is the most striking abnormality. Viewed in consideration of recent reports on abnormal human embryos, the brain permits an outline of what must have occurred during the embryonic period proper. Initially and without rupture of the overlying skin, the huge primitive midbrain was split open by a neural cleft (neuroschisis). Thus caused in turn were: neuroschistic adhesion between the midbrain roof and skin, so that its tectum was pulled into the sac and the aqueduct absent; anchoring of the midbrain tegmentum superficially at the neck of the sac, so that several cerebral structures were markedly dislocated and the cranial nerves elongated; adhesive herniation into the sac of the primitive fourth ventricle roof at its rostral end, so that the vermis could not form; and fetal development of the cerebellar hemispheres, ventrally, within a posterior fossa which retained its relatively large embryonic size. This specimen aids in understanding the origin and conformations of two much discussed syndromes called the Arnold Chiari and the Dandy Walker malformations. It combines features of each, some of these not formerly recognized. To a lesser degree these features appear in reported cases of infants which are tabulated for clinical correlations. The specimen also furnishes more evidence that both malformations, despite their well known dissimilarities, stem from a common cause, namely the morphological entity of neuroschisis in abnormal embryos.
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Syndromes identified in fetuses with prenatally diagnosed cephaloceles
Article
  • Sep 1994
An evaluation of all fetuses from our institution with prenatally diagnosed cephaloceles was conducted to determine the frequency and spectrum of genetic syndromes associated with this abnormality. Review of the sonographic images, postnatal autopsy or pathology reports, delivery room records, paediatric neurosurgical findings, radiographs, and cytogenetic data were collected. Fifteen postnatally confirmed cases of prenatally diagnosed cephaloceles and two misdiagnosed cases were identified. Thirteen were midline occipital lesions, one was frontoparietal, and one was frontoethmoidal. Excluding microcephaly, hydrocephaly, and distortion of intracranial anatomy, 9 of 15 (60 per cent) had other associated anomalies, including two fetuses with aneuploidy. The prenatal diagnosis of a cephalocele should initiate a thorough search for other abnormalities. In this series, there were three multifactorial, two chromosomal, two sporadic, and two autosomal recessive syndromes identified. An accurate diagnosis is critical in determining the prognosis and providing appropriate genetic counselling.
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