Tanya Kitova

Postnatally Diagnosed Agenesis of Corpus Callosum in Fetuses

Objectives: To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC. Methods: The subjects of observation are 20 fetuses from a total of 2238 autopsies carried out during a period of three years (2006–2009) in Tunis. Results: The associated abnormalities are hydrocephalus, cerebellar hypoplasia, agenesis of vermis cerebelli, polymicrogyria and lissencephaly. Sixteen of the cases (80%) are syndromic: Trisomy 13,18,21 (5,1,2 fetuses respectively) and Thanatophoric dysplasia, Fetal akinesia syndrome, Dandy-Walker Malformation and the Association VACTERL are represented by two cases each. Conclusion: The prenatal diagnosis of ACC must be the result of a multidisciplinary approach. The phenotype of the XLAG syndrome creates an interest to study asymptomatic patients with ACC, especially when the anomaly is detected prenatally.

Fetopathological aspects of holoprosencephaly.

Fetopathological Aspects of Holoprosencephaly Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial importance to find ways of timely detection of this pathological condition. The present study aimed at finding an association of holoprosencephaly with facial dysmorphia and anomalies of visceral organs that would alert the physician to be very careful in making the prenatal diagnosis, which may require termination of pregnancy by medical indications. Material and methods: The study included 15 fetuses diagnosed with holoprosencephaly out of 2095 cases analysed post-mortem in the Fetopathology Clinic at the Centre for Maternity and Neonatology in the town of Tunisia over a period of 3 years (Oct. 2006 - Oct. 2009). The fetuses were analysed macro- and microscopically. Results: All forms of holoprosencephaly include elements of facial dysmorphism with the facial phenotypes of cyclopia, cebocephaly and ethmocephaly. It can be associated with specific internal organs anomalies, the hydrocephaly being the most common anomaly ofthe central nervous system. Our study suggested that holoprosencephaly can be correlated with craniofacial anomalies affecting the midfacial and medium craniovisceral structures. Conclusion: The anatomical variations of HPE and the phenotypic facial correlations require a systematic and targeted study of central nervous system. Фетопатологические аспекты го-лопрозенцефалии (нре) Введение: Голопрозенцефалия (НРЕ) представляет собой аномалию центральной нервной системы, варьирующую в границах 1 - 250 для фетусов и 1-10 000 для новорожденных. Тяжелые формы несовместимы с жизнью. Их легко можно диаг-ностировать во время пренаталъного периода, а что касаетса легких форм, они могут остаться нераспознанными. Внимание авторов привлечено важностью этой аномалии; ее следует распознать и вовремя диагностировать, так как она может отразиться на беременности и несущих ее ново-рожденных. Цель: Настоящее исследование ставит себе целью найти ассоциацию НРЕ с лицевыми дис-морфиями и с аномалиями внутренних органов, что требует адекватно повышенного внимания при- постановке пренаталъного- диагноза- с целью эвентуального прекращения беременности по ме-дицинским показаниям. Материал и метод: В исследование включено 15 фетусов с диагностированной голопрозенцефалией (сделано всего 2095 аутопсий в Centre de Maternite et Neonatalogie de Tunis в течение трех лет: ок-тябрь 2006 - октябрь 2009 г.). Применен метод аутопсии фетусов (макроскопический и микроско-пический анализы). Результаты: Все типы НРЕ содержат элементы фациальной дисморфии с лицевыми фенотипами циклопии, цебо- и этмоцефалии. НРЕ можно ас-социировать с аномалиями внутренних органов. Гидроцефалия является самой часто встречаемой ассоциированной аномалией центральной нервной системы. Настоящее исследование показывает, что НРЕ представляет кранио-фациалъную аномалию с затрагиванием срединных мягколицевых и срединных костных кранио-висцеральных структур. Заключение: Анатомические вариации НРЕ и фенотипные лицевые корреляции требуют сис-тематического и целенаправленного исследования центральной нервной системы.

Mucocele of the Paranasal Sinuses – Retrospective Analysis of a Series of Seven Cases

Abstract Aim: The present study aimed at identifying the risk factors, typical clinical symptoms and applied treatment in seven cases with mucocele of the paranasal sinuses. Materials and methods: Seven patients suffering from mucocele of the paranasal sinuses were admitted to the Clinic of Neurosurgery and the Clinic of Ear, Nose and Throat Diseases between 2014 and 2016. There were 4 females and 3 males aged between 22 and 78 (95% CI [31.44, 70.23]). Initial symptoms, their duration, clinical presentation upon admission, localization of the mucocele, type of surgical intervention and outcome have all been studied. Results: The localization of the mucocele was frontal (2 cases), fronto-ethmoidal (2 cases), ethmoidal (1 case) and spheno-ethmoidal (2 cases). Risk factors were identified in 4 cases. Endoscopic marsupialization of the mucocele was performed in 5 cases. One patient with intracranial extension of frontal mucocele was treated via right frontobasal craniotomy. One of the patients refused surgery. Conclusion: Endoscopic marsupialization should be considered as a method of choice in cases with mucoceles without extensive intracranial invasion. This approach offers adequate drainage, balloon dilatation of the natural sinus openings that prevents future recurrence.

A fetopathological and clinical study of the Dandy-Walker malformation and a literature review

Abstract Aim: The Dandy-Walker malformation is a rare abnormality of the central nervous system pertaining to the group of cystic malformations. The frequency of occurrence of the malformation ranges from 1:800 to 35,000 live births. The aim of this study is to investigate the Dandy-Walker malformation in two cases – one by autopsy after abortion due to medical indications during the 25th gestational week at The Clinic of Embryo and Fetopathology, Center for Maternity and Neonatology, Tunis, Tunisia, and another case of a 1-year-old infant diagnosed with an acute internal hydrocephalus at The Clinic of Neurosurgery, Medical University Plovdiv, Bulgaria, and to compare the results with those in the literature. Results: Both cases are of an isolated Dandy-Walker malformation without any associated abnormalities of the central nervous system and other organs and systems. After the placement of a ventriculoperitoneal shunt in the second case, the child’s condition was greatly improved. Conclusion: The question arises whether the prenatal diagnosis of an isolated Dandy-Walker malformation is an indication for pregnancy termination, and who and after what examinations has the right to make this decision, given the favorable outcome after surgical treatment.

Correlation of trisomy 13 with atelencephalic aprosencephaly

Abstract A rare phenotype-genotype correlation of atelencephalic aprosencephaly in a fetus with free trisomy 13 karyotype, obtained by pregnancy termination for holoprosencephaly during the 26th gestational week, is presented. Lack of cerebral hemispheres and presence of rudimentary diencephalon, brain stem and hypoplastic cerebellum were revealed. Agenesis of the eyeball, of the optic nerve and of the pyramids of the medulla oblongata was established. Skull and face examination found craniostenosis, microcephaly, cella turcica agenesis, cyclopia, cleft palate and nose agenesis.The correlation between the most common karyotype of trisomy 13 and the very rare brain abnormality atelencephalic aprosencephaly suggests that the study of parental karyotype is desirable to inform parents about its accidental and non-hereditary nature in a probable future pregnancy.

Thoracic Meningioma In Combination With Severe Lumbar Spinal Stenosis Presenting With Atypical Neurological Deficit.

Abstract We report on a case of a 47-year-old female patient with a long history of low back pain irradiating bilaterally to the legs. Twenty days before admission to our clinic, she had developed progressive weakness in the legs, more pronounced on the left side. The initial neurological examination revealed signs of damage to both the cauda equina and the spinal cord. The neuroimaging studies (computed tomography, myelography and magnetic-resonance tomography) found spinal stenosis most severe at L4-L5 level, and right lateral thoracic intradural-extramedullary tumor at T9-T10 level. The patient underwent two neurosurgical procedures. The first stage included microsurgical resection of the thoracic lesion and the second stage aimed at decompressing the lumbar spinal stenosis. To avoid missing a diagnosis of thoracic lesions, it is necessary to perform a thorough neurological examination of the spinal cord motor and sensory functions. In addition, further MRI examination of upper spinal segment is needed if the neuroimaging studies of the lumbar spine fail to provide reasonable explanation for the existing neurological symptoms.

A fetus with meckel-gruber syndrome associated with isomerism

Abstract. Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation. As far as we know, the rate of incidence for the syndrome is 0.02 per 10,000 births. It is estimated that Meckel-Gruber syndrome accounts for 5% of all neural tube defects in Finland. Objective. The aim of this study is to present a case of a fetus with Meckel-Gruber syndrome associated with complete left isomerism. Method. The fetus was obtained after medical interruption of the pregnancy during the fifteenth gestational week. The mother was 36 years old and in a consanguineous marriage. The antenatal ultrasound examination revealed a polymalformative syndrome, leading to a postmortem examination. The fetopathological study of the fetus was conducted at the Centre for Maternity and Neonatology, Tunis, Tunisia, in 2008. Results. The female fetus had a significantly deformed ballooning abdomen, pes equinovarus, flexion of the wrist and a total posterior cleft palate. The central nervous system abnormalities were occipital encephalocele, cystic dilatation of the fourth ventricle, agenesis of corpus callosum and hydrocephalus. The study of the internal organs found dextrocardia, irregular lobulation of the lungs, left isomerism, and polysplenia. The microscopic examination revealed bilateral cystic dilation of the kidneys, fibrous proliferation of the liver and ectasic dilatation of the billiary ducts, representing a ductal plate malformation of the liver. Conclusion. The case is diagnosed with Meckel-Gruber syndrome associated with complete left isomerism, cleft palate and possibly Dandy-Walker syndrome.

Demographic factors and associated anomalies in fetuses with neural tube defects

Abstract The aim of this study was to identify the types of abnormalities associated with neural tube defects (NTDs) and the magnitude of the risk for their expression under the influence of the following factors: maternal age >35 years, consanguinity and season of conception. One hundred and fifty fetuses were autopsied during the period 2006–2009 at the Center for Maternity and Neonatology, Tunisia. A mother’s age of >35 years increases the probability of intrauterine growth retardation by two-fold [odds ratio (OR) 2.043, confidence interval (CI) 0.880–4.741]. Consanguinity increases the relative risk for abnormalities in the facial shape (OR 3.031, CI 1.279–7.183) and adrenal hypoplasia (OR=2.787, CI 1.140–6.814). The autumn-winter period of conception increases the relative risk for the expression of cleft palate by more than nine times (OR 9.035, CI 1.161–70.258) and by about three times for abnormalities of the excretory tract (OR 2.935, CI 0.954–9.141). The prenatal ultrasound diagnosis of NTDs with risk factors such as maternal age >35 years, consanguinity and conception during the autumn-winter period should be targeted to the search for lower-than-normal fetal weight and abnormalities of the excretory tract and the adrenal glands. The head should be examined with special care for deviations in the cranial perimeter and cleft palate.

Gender and Associated Skeletal Abnormalities in Fetuses with Neural Tube Defects

Objective: To determine the association between gender and skeletal defects in fetuses with NTDs. Methods: 150 NTD fetuses have been examined in three years’ course (01.2006–01.2009) in the Clinic of Fetopathology at the Center for Maternity and Neonatology, Tunis. Results: The most common gender associated anomalies for males are cleft palate, anomalies in the form and attachment of the outer ear and the agenesis of corpus callosum. For women, they are distortions of the spine and “frog” face. Conclusion: The proven associations in the study are important indicators in the purposeful search for NTDs in early prenatal ultrasound diagnosis.

Maternal factors and associated anomalies in NTD fetuses from Tunisia

Aim of the studyTo determine the impact of maternal age, consanguinity, season of conception and variation in the amount of amniotic fluid for the appearance of anomalies associated with neural tube defects (NTDs).Materials and methods150 NTD fetuses, a result from autopsies (macroscopic autopsy; microscopic study of biopsy fragments; macro and microscopic brain examination), have been examined during a period of three years (01.2006, 01.2009), in the Clinic of Fetopathology, at the Center of Maternity and Neonatology — Tunisia.ResultsAnomalies associated with NTDs occur three times more often in pregnancies with an abnormal amount of amniotic fluid. Also, their likelihood of cardiovascular and reproductive system anomalies is increased four times. Nearly 80% of the NTD fetuses conceived during the autumn-winter period have acrania. Women older than 35, are twice more likely to have underweight children and children with defects of the digestive system and hand. They are also three times more likely to have fetuses with endocrine system abnormalities. Anomalies incompatible with life occur twice as often in consanguineous unions.ConclusionThe mother’s age, consanguinity, season of conception, and variation in the amount of amniotic fluid have considerable impact on the emergence of associated anomalies in fetuses with NTDs.