Humans ; Encephalocele ; Meningocele/complications* ; Temporal Bone

Encephalocele ; Facial Bones ; Humans ; Meningocele ; Temporal Bone/diagnostic imaging*

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a Chinese couple whom had conceived two fetuses featuring multiple malformations including polycystic kidney, polydactyly and encephalocele. METHODS: Following elective abortion, the fetus from the second pregnancy was subjected to whole exome sequencing. Suspected pathogenic variants were verified by Sanger sequencing of the fetus and its parents. RESULTS: The fetus was found to harbor compound heterozygous variants of the CEP290 gene, namely c.2743G>T (p.E915X) and c.2587-2A>T, which were respectively inherited from its father and mother. The same variants were not detected among 100 healthy controls nor reported previously. Bioinformatic analysis suggested both variants to be deleterious. The fetus was diagnosed with Meckel-Gruber syndrome. Prenatal diagnosis for the couple during their next pregnancy suggested that the fetus did not carry the above pathogenic variants. CONCLUSION The compound heterozygous variants of the CEP290 gene probably underlay the pathogenesis of Meckel-Gruber syndrome in the second fetus. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the couple, and also enriched the mutational spectrum of the CEP290 gene.
China ; Ciliary Motility Disorders ; Encephalocele/genetics* ; Female ; Genetic Testing ; Humans ; Pedigree ; Polycystic Kidney Diseases/genetics* ; Pregnancy ; Prenatal Diagnosis ; Retinitis Pigmentosa

PURPOSE: Rapid decompressive craniectomy (DC) was the most effective method for the treatment of hypertensive intracerebral hemorrhage (HICH) with cerebral hernia, but the mortality and disability rate is still high. We suspected that hematoma puncture drainage (PD) + DC may improve the therapeutic effect and thus compared the combined surgery with DC alone. METHODS: From December 2013 to July 2019, patients with HICH from Linzhi, Tibet and Honghe, Yunnan Province were retrospectively analyzed. The selection criteria were as follows: (1) altitude ≥1500 m; (2) HICH patients with cerebral hernia; (3) Glascow coma scale score of 4-8 and time from onset to admission ≤3 h; (4) good liver and kidney function; and (5) complete case data. The included patients were divided into DC group and PD + DC group. The patients were followed up for 6 months. The outcome was assessed by Glasgow outcome scale (GOS) score, Kaplan-Meier survival curve and correlation between time from admission to operation and prognosis. A good outcome was defined as independent (GOS score, 4-5) and poor outcome defined as dependent (GOS score, 3-1). All data analyses were performed using SPSS 19, and comparison between two groups was conducted using separate t-tests or Chi-square tests. RESULTS: A total of 65 patients was included. The age ranged 34-90 years (mean, 63.00 ± 14.04 years). Among them, 31 patients had the operation of PD + DC, whereas 34 patients underwent DC. The two groups had no significant difference in the basic characteristics. After 6 months of follow-up, in the PD + DC group there were 8 death, 4 vegetative state, 4 severe disability (GOS score 1-3, poor outcome 51.6 %); 8 moderate disability, and 7 good recovery (GOS score 4-5, good outcome 48.4 %); while in the DC group the result was 15 death, 6 vegetative state, 5 severe disability (poor outcome 76.5 %), 4 moderate disability and 4 good recovery (good outcome 23.5 %). The GOS score and good outcome were significantly less in DC group than in PD + DC group (Z = -1.993, p = 0.046; χ CONCLUSION PD + DC treatment can improve the good outcomes better than DC treatment for HICH with cerebral hernia at a high altitude.
Adult ; Aged ; Aged, 80 and over ; Altitude ; China ; Decompressive Craniectomy ; Drainage ; Encephalocele/surgery* ; Hematoma ; Humans ; Intracranial Hemorrhage, Hypertensive/surgery* ; Middle Aged ; Prognosis ; Punctures ; Retrospective Studies ; Treatment Outcome

Primary amebic encephalitis (PAM) is a devastating central nervous system infection caused by Naegleria fowleri, a free-living amoeba, which can survive in soil and warm fresh water. Here, a 43-year-old healthy male was exposed to warm freshwater 5 days before the symptom onset. He rapidly developed severe cerebral edema before the diagnosis of PAM and was treated with intravenous conventional amphotericin B while died of terminal cerebral hernia finally. Comparing the patients with PAM who has similar clinical symptoms to those with other common types of meningoencephalitis, this infection is probably curable if treated early and aggressively. PAM should be considered in the differential diagnosis of purulent meningoencephalitis, especially in patients with recent freshwater-related activities during the hot season.
Adult ; Amoeba ; Amphotericin B ; Brain Edema ; Central Nervous System Infections ; Central Nervous System Protozoal Infections ; Diagnosis ; Diagnosis, Differential ; Encephalitis ; Encephalocele ; Fresh Water ; Humans ; Male ; Meningoencephalitis ; Naegleria fowleri ; Seasons ; Soil

About one-third of patients with transsphenoidal basal encephaloceles have associated congenital anomalies, including cleft palate. Moreover, they are often plagued by symptomatic exacerbations in the form of upper respiratory obstructions, cerebrospinal fluid leaks, meningitis, etc., with few patients being asymptomatic. We herein present a rare asymptomatic case of transsphenoidal basal encephalocele in an 18-month-old child with cleft palate and highlight a modified version of two-flap palatoplasty.
Cerebrospinal Fluid Leak ; Child ; Cleft Palate ; Encephalocele* ; Humans ; Infant ; Meningitis

This 24-year-old woman presented to ENT outpatients with an enlarging swelling in the right external auditory canal. A radical mastoidectomy for chronic suppurative otitis media with cholesteatoma had previously been undertaken at another institution. On clinical examination there was an otologic mass that was tender on probing. High resolution imaging of the temporal bones and a subsequent MRI brain confirmed the mass was a temporal lobe encephalocele. A temporal lobe encephalocele is where a segment of the temporal lobe invaginates through a defect in the tegmen tympani. The brain is separated from the middle ear and mastoid process by an exceptionally thin layer of bone – the tegmen tympani. Damage to the tegmen compromises the barrier with the brain and may occur for a number of reasons. This includes congenital, traumatic, post-infectious, malignant invasion, post-radiation therapy and post-surgical causes.1 When this occurs the brain may extrude through the defect resulting in a temporal lobe encephalocele. A bony defect alone, whatever the cause, is insufficient to always result in an encephalocele. Even with dehiscence of the tegmen the dura is capable of supporting the brain issue without herniation. Only when the integrity of the dura is compromised does an encephalocele occur.2 This may be due to the underlying disease process (such as cholesteatoma causing an intracranial abscess) or both purposeful (opening dura to drain an adjacent intracranial abscess) /non-purposeful surgical intervention. Mainstream microsurgical techniques however have lowered the incidence of dural violation.3 Historically, infection was a major cause, but with the ready availability of antibiotics and prompt management, the key contemporary cause is iatrogenic, following mastoid surgery. However, the overall incidence is uncommon following otologic surgery. In a review of 25 years of middle ear/mastoid encephalocele cases 77% were identified to be iatrogenic in origin.4 This patient presented with the finding of a mass observed in the external auditory canal. Less common findings at attendance include tympanic perforation, cholesteatoma, otorrhoea and meningitis.4 The key to diagnosis hinges on cross-sectional imaging: combined imaging with CT to assess the osseous structures and MRI for soft tissue review. The high-resolution CT (HRCT) of the temporal bones illustrates a large defect in the right tegmen tympani with a large soft tissue lesion occupying the post-surgical mastoid cavity abutting the tympanic membrane. (Figures 1A, B) The defect of 15mm in the tegmen was more than double the average of 7.2mm reported elsewhere.4 The MRI confirms the defect in the tegmen with the protrusion of a knuckle of the right temporal lobe and its overlying meninges through the defect into the mastoid cavity. The dumb-bell appearance is typical with the narrower neck at the site of the tegmental dehiscence. The extruded brain occupies the post-operative middle ear cavity. (Figures 2 A, B and C) The defect size and volume of herniated brain can be accurately assessed, both of which may be key determinates of the type of surgical procedure. Revision mastoidectomy with repair of the tegmen defect and dural integrity using a combined intracranial-mastoid approach is planned as a joint case with neurosurgical colleagues.
Encephalocele ; Jaw Abnormalities ; Facial Bones

Vascular compromise is a well-known consequence of brain herniation syndromes. Transtentorial brain herniation most often involves posterior cerebral arteries. However, isolated involvement of contralateral superior cerebellar artery (SCA) during unilateral impending brain herniation is reported only once and we present another case of this exceedingly rare entity. A 24-year-old man was referred to us with impending herniation due to a multiloculated hydrocephalus, and during the course of illness, he developed an isolated SCA ischemia in the opposite side of the most dilated entrapped horn. In the current article we discuss the probable pathophysiologic mechanisms of this phenomenon, as well as recommending more inclusive brain studies in cases suspected of Kernohan-Woltman notch phenomenon in unilateral brain herniation. The rationale for this commentary is that contralateral SCA transient ischemia or infarct might be the underdiagnosed underlying pathomechanism of ipsilateral hemiparesis occurring in many cases of this somehow vague phenomenon.
Animals ; Arteries* ; Brain* ; Encephalocele ; Horns ; Humans ; Hydrocephalus ; Ischemia ; Paresis ; Posterior Cerebral Artery ; Stroke ; Young Adult

Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital. Surgical techniques used to correct the deformity were box osteotomy and medial wall osteotomy with or without calvarial and rib grafts. A few of our cases were reoperations with specific challenges.
Chromosome Disorders ; Congenital Abnormalities ; Dermoid Cyst ; Encephalocele ; Hypertelorism* ; Nose ; Orbit ; Osteotomy ; Ribs ; Transplants

Neuroglialchoristoma is a rare cerebral heterotopia typically involving extracranial midline structures of the head and neck, including the nose, nasopharynx and oral cavity. It rarely involves non-midline structures, such as the middle ear, mastoid and orbit. We report the case of a 63-year-old woman with right-sided hearing loss and aural fullness who was diagnosed with neuroglialchoristoma of the middle ear and mastoid. To our knowledge, this is the first report on neuroglialchoristomawith massive tympanosclerosis. The presence of combination supported the inhalation theory of neuroglialchoristoma, given that tympanosclerosis is typically caused by Eustachian tube dysfunction.
Choristoma* ; Ear, Middle* ; Encephalocele ; Eustachian Tube ; Female ; Head ; Hearing Loss ; Humans ; Inhalation ; Mastoid ; Middle Aged ; Mouth ; Myringosclerosis* ; Nasopharynx ; Neck ; Neuroglia ; Nose ; Orbit