Mermaid syndrome associated with VACTERL-H syndrome.

Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the literature. We present a new case of type I sirenomelia associated with VACTERL-H syndrome and review the relevant literature. A 15-year-old female patient was admitted to the Department of Pathological Pregnancy at St George University Hospital, Plovdiv with progredient abortion during her first pregnancy. She had low socioeconomic status, negative history of concomitant diseases and addictions. The patient avoided prophylactic intake of folic acid during her pregnancy. Prenatal ultrasound found a malformative fetus. Consequently, magnetic resonance imaging was performed which established the presence of hydrocephalus and defects in the lower part of the spine. These pathological findings indicated interruption of pregnancy at 20 weeks of gestation. The fetopathological examination found sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal and ureteric agenesis, bladder agenesis, tracheo-esophageal fistula, agenesis of external genitals, monkey fold of the left palm of the hand, also known as VACTERL-H syndrome.Our case demonstrates that mermaid syndrome and VACTERL-H syndrome represent different manifestations of a single pathological process that results in disorders of the blastogenesis at different stages during embryonic development.

Mucocele of the Paranasal Sinuses - Retrospective Analysis of a Series of Seven Cases.

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.

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

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.

Fetopathological aspects of holoprosencephaly.

UNLABELLED: 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 of the 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.