A rare case of Meckel Gruber syndrome

Meckel Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder.  It is characterized by triad of features having occipital meningoencephalocele, polycystic kidneys and post-axial polydactyly. We report an antenatal patient detected with occipital meningoencephalocele in foetus on early anomaly scan at 15 weeks of gestation followed by foetal MRI which revealed the typical triad features strongly suggestive of MGS. The patient opted for medical termination of pregnancy and the abortus was autopsied, with the permission of the patient, for detailed evaluation of anomalies which were consistent with MGS. This case highlights the importance of a detailed foetal evaluation antenatally to detect anomalies which are incompatible with life and proper diagnosis as it has bearing on patient’s future obstetric outcome.

Manejo endoscópico del meningoencefalocele de base de cráneo anterior / Endoscopic management of anterior skull base meningoencephalocele

RESUMEN La fístula de líquido cefalorraquídeo (LCR) corresponde a una comunicación anormal entre el espacio subaracnoideo y la porción neumatizada de la base de cráneo anterior en relación con las cavidades paranasales. Fístulas persistentes requieren reparación quirúrgica por el riesgo de meningitis, abscesos cerebrales y neumoencéfalo asociado. El gold standard es el abordaje extracraneal endoscópico. Uno de los principales inconvenientes es dañar estructuras intracraneanas nobles. La ayuda de tecnologías como la cirugía guiada por imágenes, contribuye a disminuir este problema. A continuación se presentan dos casos clínicos de fístula de líquido cefalorraquídeo en base de cráneo anterior, asociado a meningoencefalocele, intervenidos por cirugía endonasal guiada por imágenes.

ABSTRACT Endoscopic management of anterior skull base meningoencephalocele. The cerebrospinal fluid leak (CSF) is an abnormal communication between the subaracnoid space and the pneumatic portion of the anterior cranial base which is related to the paranasal cavities. The persistent leak requires surgery due to the potential complications such as meningitis, cerebral abscess or pneumoencephalus. Extracranial endoscopic approach is the gold standard procedure. One of the most important risk of the surgery is to damage noble intracranial structures. This situation can be ameliorated by using image guided surgery. We present two cases of CSF in anterior cranial base associated with meningoencephalocele that were treated in our center using nasal image guided endoscopic surgery.

A case of occult fronto temporo parietal meningoencephalocele in an infant.

We describe a case of an occult fronto temporo parietal meningoencephalocele discovered in a 45 days old infant baby. The most common cause for meningoenphalocele is trauma by any means during birth or during development. But here in our case there is lack of such significant history of trauma and so the possible cause of the lesion may be congenital defect only. Preoperative Clinical, CT and MR images are presented. Lesion was removed surgically with satisfactory post operative recovery.

Anaesthetic management of neonate with giant occipital meningoencephalocele: case report.

Meningoencephalocele is herniation of cerebrospinal fluid, brain tissue and meninges through the skull defect. The anaesthetic management of occipital meningoencephalocele is challenging because of the difficulty in securing airway, prone position, blood loss and, perioperative care. The two major aims of the anaesthesiologists while caring for children with occipital encephalocoele intraoperatively are to avoid premature rupture of the encephalocoele and to manage a possible difficult airway due to restricted neck movement and inability to achieve optimal position for intubation of the trachea. We report a case of giant occipital meningoencephalocele presented for surgical excision. Perioperative management of patients with giant meningoencephalocele may be challenging for both anaesthesiologist and neurosurgeon. These patients must be managed closely with an interdisciplinary approach.

Anaesthetic management of neonate with giant occipital meningoencephalocele: case report.

Meningoencephalocele is herniation of cerebrospinal fluid, brain tissue and meninges through the skull defect. The anaesthetic management of occipital meningoencephalocele is challenging because of the difficulty in securing airway, prone position, blood loss and, perioperative care. The two major aims of the anaesthesiologists while caring for children with occipital encephalocoele intraoperatively are to avoid premature rupture of the encephalocoele and to manage a possible difficult airway due to restricted neck movement and inability to achieve optimal position for intubation of the trachea. We report a case of giant occipital meningoencephalocele presented for surgical excision. Perioperative management of patients with giant meningoencephalocele may be challenging for both anaesthesiologist and neurosurgeon. These patients must be managed closely with an interdisciplinary approach.

A Case of Endoscopic Reconstruction of Skull Base Defect Combined with Meningoencephalocele in the Sphenoid Sinus / 대한이비인후과학회지

A skull base defect mainly occurs as a result of congenital defect, trauma, iatrogenic injury, inflammatory erosion, increased intracranial pressure or neoplasm. Meningoencephalocele is one of them resulting in skull base defects. Among the several types of meningoencephalocele, protrusion to lateral wall of sphenoid sinus in the basal type is less frequently encountered than other types and has not been reported in Korea. We report a patient with meningoencephalocele protruded to sphenoid sinus wall. It was successfully repaired with nasoseptal flap through the intranasal endoscopic approach.

Treatment of Meningoencephalocele of Temporal Bone Occurred after Open Cavity Mastoidectomy / 대한이비인후과학회지

Meningoenceophalic herniation into the external auditory canal is a rare and potentially life threatening condition that needs a surgical treatment. It can lead to potential infectious sequelae including meningitis, encephalitis, otologic brain abscess and dysfunctional herniated brain tissue can trigger epilepsy. It is caused by chronic otitis media, cholesteatoma, middle ear surgery, trauma, congenital skull base defect and irradiation. We present a case of meningoencephalic herniation into the external auditory canal that had occurred 8 years after open cavity tympanomastoidectomy, which was treated with subtemporal middle cranial fossa approach.

Obliteración del seno frontal para el tratamiento de fístulas de LCR y meningoencefaloceles / Frontal sinus obliteration for treatment of CSF leaks and meningoencephaloceles

El tratamiento endoscópico de las fístulas de LCR se ha convertido en el gold standard. No obstante, aquellas localizadas en seno frontal presentan serias dificultades para su abordaje endoscópico, especialmente si se asocia la existencia de un meningoencefalocele. En estos casos se debe valorar el abordaje externo con obliteración del seno frontal. Presentamos dos casos de fístulas de LCR cuyo origen fue debido a sendos meningoencefaloceles protruyendo a través de la pared posterior del seno frontal y que precisaron de un abordaje externo para su tratamiento.

Endoscopic treatment of CSF leak is the Gold Standard. Nevertheless, at frontal sinus it is very difficult the endoscopic approach, especially if there is a meningoencephalocele associated. In these cases, an external approach with frontal sinus obliteration should be considered. We present two cases of CSF leaks whose origin are meningoencephaloceles that protrude from posterior frontal sinus wall, treated with an external approach.

A Case of Simultaneous Correction of Frontoethmoidal Meningoencephalocele and Hypertelorism

PURPOSE: A meningoencephalocele is a congenital malformation involving herniation of the meninges and cerebral tissue through a defect in the skull. For the patient with frontoethmoidal meningoencephalocele with hypertelorism, the removal of the meningoencephalocele without correction of the combined hypertelorism is not enough for getting a good cosmetic appearance. Correction of the hypertelorism is needed for cosmetic problem. We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. METHODS: The meningoencephalocele was removed and the hypertelorism was corrected by central segment technique. The bone defects were filled with autogenous bone dusts. And the nose was reconstructed by a calvarial bone graft. RESULTS: The patient had a good cosmetic appearance without any neurological complications without serious complications. CONCLUSION: We experienced a case of simultaneous correction of frontoethmoidal meningoencephalocele with hypertelorism. And a brief review of related literatures is given.

Recurrent Streptococcus Pneumoniae Meningoencephalitis in a Patient With a Transethmoidal eningoencephalocele

We report a case of recurrent Streptococcus Pneumoniae meningoencephalitis with a transethmoidal meningoencephalocele (TEME) but without cerebrospinal fluid (CSF) leakage. A 35-year-old man was admitted with S. pneumoniae meningitis. He had suffered from four episodes of recurrent pneumococcal meningitis during the previous 4 years. A computed tomography scan of the paranasal sinus showed the TEME protruding through a bony defect of the right frontal base. However, the patient did not have symptoms that could be attributable to CSF leakage, and radioisotope cisternography did not identify a leak. Brain magnetic resonance imaging revealed cortical lesions overlying the TEME, and electroencephalography revealed epileptiform discharges in frontal regions. Appropriate antibiotics therapy without steroids was given to improve his condition. The presented case suggests that even in the absence of clinically demonstrable CSF leakage, an occult skullbase defect and its associated meningoencephalocele should be considered in patients with recurrent bacterial meningitis.

Pituitary Adenoma Accompanying Sphenoidal Meningoencephalocele with Clival Extension

Encephaloceles are known as rare craniofacial developmental anomalies which are herniation of cranial contents through a skull defect. Sphenoidal meningoencephalocele represents an important cause of reVersible visual loss. We report a rare case of pituitary adenoma accompanying sphenoidal meningoencephalocele with clival extension. Although the definitive diagnosis of cystic lesions in the sellar region before surgery is difficult, accurate diagnosis of these lesions is important to determine the type of treatment and predict prognostic outcome.

Pituitary Adenoma Accompanying Sphenoidal Meningoencephalocele with Clival Extension

Encephaloceles are known as rare craniofacial developmental anomalies which are herniation of cranial contents through a skull defect. Sphenoidal meningoencephalocele represents an important cause of reVersible visual loss. We report a rare case of pituitary adenoma accompanying sphenoidal meningoencephalocele with clival extension. Although the definitive diagnosis of cystic lesions in the sellar region before surgery is difficult, accurate diagnosis of these lesions is important to determine the type of treatment and predict prognostic outcome.

A Case of Intranasal Meningoencephalocele / 대한이비인후과학회지

Meningoencephalocele is an ectopic protrusion of the meninges and a portion of the brain that retains connection with the CNS through a defect in the bony covering. It is a rare developmental anomaly that results from faulty closure of the embryonic neural tubes. Meningoencephalocele is usually classified into occipital, sincipital and basal types according to the location and among these, the basal type is less frequently encountered than other types. The authors have experienced a case of basal-type intranasal meningoencephalocele in 4 year-old male patient, which was removed successfully via bifrontal craniotomy and intranasal endoscopic approach, and the defect of skull base was repaired by inner table of the cranium and septal mucosa with good result.

Meckel-Gruber Syndrome: An autopsy case

We report an autopsy of a male fetus that showed multiple congenital anomalies that could best be designated as Meckel-Gruber syndrome. The fetus was born dead at the gestational age of 38 weeks. His parents denied any history of congenital malformation. And the parity of the mother was 0-0-0-0, but she had the past history of receiving herb medication for common cold. The congenital anomalies found in this case consited of occipital meningoencephalocele, midline cleft palate, bifid epiglottis, hepatic fibrosis, choledochal cyst, bilateral polycystic kidneys, postaxial polydactyly of both hands and feet, aplasia of the left testis, secundum type atrial septal defect and patent ductus arterious. This malformation syndrome is rare and lethal. The prenatal diagnosis should be made by ultrasound study or analysis of the amniotic fluid for alpha-feto protein during intrauterine period. The kidneys showed Potter type III cystic change and there was a characteristic hepatic fibrosis.

Prognosis of Immediate Operative Closure in Myelomeningocele and Meningoencephalocele: Report of Three Operative Cases

A child born with spinal dysraphism and encephalocele faces the multiple and serious hazards of meningitis, hydrocephalus, paralysis and deformity of the lower limbs, and urinary bladder paralysis. The improvement in surgical management, and the advent of the shunt device for the control of hydrocephalus have so greatly altered the immediate prognosis that even a child with an extensive myelomeningocele must be considered to have a good chance of survival. We have presented a case of myelomeningocle, and two cases of meningoencephalocele and immediate repair techniques, and prognosis. 1) Surgical repair should be undertaken urgently, if possible within the first 48 hours of life and its role was the preservation of motor, sensory and intellectual function. 2) Carefully dissected the nerve filaments from the sac and replaced them into the dural canal and excised the functionless filament for prevention of spine deformity. 3) Shunt surgery should be considered before operation or immediate postoperation, in situation of huge meningoencephalocele.