Trigeminal neuralgia in a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal-recessive disease associated with multiple deletions of mitochondrial DNA in skeletal muscle. MNGIE is a multisystem syndrome affecting muscle, peripheral, and central nervous systems and the gastrointestinal tract. A 25-year-old man is presented with 3 years history of right sided trigeminal neuralgia. He has been diagnosed as MNGIE based on clinical, neurophysiological and pathological findings. He had also received medical therapy and two radiofrequency thermocoagulations for the treatment of trigeminal neuralgia. Gamma Knife radiosurgery was performed and resulted in partial relief. To our knowledge, this is the first case in the literature of MNGIE with trigeminal neuralgia. An analogy is suggested between multiple sclerosis and MNGIE as a cause for trigeminal neuralgia in this patient.     

三叉神经痛

三叉神经痛(trigeminal neuralgia,TN)是最常见的面部疼痛综合病征,其疼痛机制尚不明确.目前,每10万人中就有100～200例三叉神经痛患者,年发病率约为5/10万,好发于老年人,平均发病年龄为50～60岁,儿童少见,女性的患病率约高于男性两倍.     

Trigeminal neuralgia in aqueduct stenosis.

Trigeminal neuralgia was the presenting symptom in two patients with aqueduct stenosis, hydrocephalus, and raised intracranial pressure. Treatment of the hydrocephalus resulted in the remission of pain in both patients.     

Trigeminal neuralgia

Trigeminal neuralgia continues to be an illness poorly known for many general practitioners and what is even worse, badly handled by many of the specialists in charge of cephalic neuralgias. In this paper I resume the main knowledge about trigeminal neuralgia reviewing the clinical, physiopathological, and therapeutical aspects of this condition.     

Dandy-Walker malformation: a rare association with hypoparathyroidism

Dandy-Walker malformation is characterized by cystic dilatation of the fourth ventricle and an enlarged posterior cranial fossa with upward displacement of the tentorium, lateral sinuses, and torcular, with agenesis or hypoplasia of the cerebellar vermis. Dandy-Walker malformation occurs in approximately the 4th week of gestation and is associated with various abnormalities involving the cardiac, skeletal, genitourinary, and gastrointestinal systems. The parathyroid gland also forms in the 3rd and 4th gestational weeks. Reported here is the case of a male infant with Dandy-Walker malformation with ventricular and atrial septal defect, unilateral renal agenesis, and hypoparathyroidism. To our knowledge, this rare association with neural crest events during the development of Dandy-Walker malformation has not been reported previously.     

Changes in a cerebellar peduncle lesion in a patient with Dandy-Walker malformation A diffusion tensor imaging study

We report a patient with severe ataxia due to Dandy-Walker malformation, who showed functional recovery over 10 months corresponding to a change in a cerebellar peduncle lesion. A 20-month-old female patient who was diagnosed with Dandy-Walker syndrome and six age- and sex-matched healthy control subjects were enrolled. The superior cerebellar peduncle, the middle cerebellar peduncle, and the inferior cerebellar peduncle were evaluated using fractional anisotropy and the apparent diffusion coefficient. The patients’ functional ambulation category was 0 at the initial visit, but improved to 2 at the follow-up evaluation, and Berg’s balance scale score also improved from 0 to 7. Initial diffusion tensor tractography revealed that the inferior cerebellar peduncle was not detected, that the fractional anisotropy of the superior cerebellar peduncle and middle cerebellar peduncle decreased by two standard deviations below, and that the apparent diffusion coefficient increased by two standard deviations over normal control values. However, on follow-up diffusion tensor tractography, both inferior cerebellar peduncles could be detected, and the fractional anisotropy of superior cerebellar peduncle increased to within two standard deviations of normal controls. The functional improvement in this patient appeared to correspond to changes in these cerebellar peduncles. We believe that evaluating cerebellar peduncles using diffusion tensor imaging is useful in cases when a cerebellar peduncle lesion is suspected.     

Trigeminal neuralgia in an elderly patient associated with a variant of persistent primitive trigeminal artery

An 86-year-old woman presented with a 10-year history of right paroxysmal facial pain. The trigger zone was the right maxilla. Magnetic resonance (MR) angiography and MR cisternography sourse images showed an aberrant artery originating from the right internal carotid artery anastomosed to the anterior inferior cerebellar artery territory (AICA) of the cerebellum, and it was closed at the root entry zone of trigeminal nerve. The patient underwent microvascular decompression (MVD), and her pain resolved after the operation. Most of the offending vessels that cause trigeminal neuralgia are the superior cerebellar artery (75-80%) and AICA. Although persistent primitive trigeminal artery (PTA) is the most common type of persistent carotid-basilar anastomosis, trigeminal neuralgia associated with PTA or a PTA variant is very rare, and particularly, a PTA variant is an uncommon, anomalous, intracranial vessel. It is necessary to inspect MR imaging scans carefully prior to MVD surgery because they are frequently associated with intracranial aneurysms. During surgery, we must be careful not to injure the perforating arteries from the PTA variant. MVD for trigeminal neuralgia in elderly patients is effective if the patients can have a tolerate general anesthesia. However, when we plan surgery for elderly patients, we must take care that it does not to lead to unexpected complications.     

Trigeminal neuralgia and glossopharyngeal neuralgia

Trigeminal neuralgia and glossopharyngeal neuralgia are extremely painful conditions that typically afflict an older population. Distinct clinical characteristics guide the diagnosis of these unique syndromes. Treatment involves medication first and then surgical procedures if a patient is refractory to medicinal therapy. Antiepileptic medications are the most effective agents for these disorders.     

Trigeminal neuralgia. Pathophysiology and treatment

Trigeminal neuralgia is a very peculiar disease. The pain, also known as "tic douloureux", is paroxystic and very severe. It can be triggered by a light cutaneous stimulus on a very localized spot on the face (the so-called "trigger zone"). The patient can sometimes benefit from long remissions without any treatment. With the exception of multiple sclerosis and of uncommon cases of posterior fossa tumours or other lesions impinging on the trigeminal nerve, ganglion or root, trigeminal neuralgia is considered as "idiopathic". Some benign abnormality had for long been suspected. The current opinion is now in favour of a "neurovascular conflict": an artery, most often a loop of the superior or anteroinferior cerebellar artery, has an offending contact with the trigeminal nerve root, which results in localized demyelination and ectopic triggering of neuronal discharges. This hypothesis is in agreement with the relief provided by antiepileptic drugs and is supported by recent neuroimaging data. Therapeutic options are reviewed: very efficient drugs are available but fail to provide a significant relief and/or have important side effects in many cases. Surgical alternatives are available, for which guidelines are proposed.     

Lennox-gastaut syndrome with and without Dandy-Walker malformation

The authors present two siblings suffering from Lennox-Gastaut syndrome. One of them also had the Dandy-Walker malformation. His seizures were difficult to control with anticonvulsant drugs, and somnolence and cerebellar ataxia easily occurred during administration of low dose anticonvulsants. On the other hand, his brother did not have this malformation, and his seizures were easily controlled. The relationship of seizure control to the Dandy-Walker malformation is discussed.     

Familial Dandy-Walker malformation and leukodystrophy

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revelaed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality.     

Dandy-Walker malformation in an infant with tetrasomy 9p

An infant with Dandy-Walker malformation and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis of primary amniocyte culture revealed true mosaicism for two cell lines: 50% of the cells had an isochromosome 9p (pter-q13::q13-pter), and the other 50% showed a normal female karyotype (46,XX). After birth the same chromosomal abnormality was found in 75% of peripheral blood lymphocytes. Phenotypic features included intrauterine growth retardation, hypotrophy of the left side of the body with left microphthalmus, and progressive hydrocephalus secondary to Dandy-Walker malformation. Although most cases of Dandy-Walker malformation are not associated with chromosomal abnormalities, our case, together with two previously reported cases of the same association, indicates that this chromosomal disorder should be looked for in children with Dandy-Walker malformation and abnormal somatic development.     

Trigeminal neurinoma associated with Chiari malformation and syringomyelia.

We report a 36 year-old woman who presented with headaches and hypoesthesia of the face. MRI revealed a large dumbbell shaped trigeminal neurinoma extending into both the middle and the posterior cranial fossae. In addition, there was a Chiari I malformation and syringomyelia. Within two months of tumor resection, both the Chiari malformation and the syringomyelia resolved. The association of an intracranial space-occupying lesion with Chiari malformation and syringomyelia is reviewed.     

Dandy-Walker malformation associated with polycystic kidneys: Goldston syndrome revisited.

A 32-year-old woman was diagnosed with chronic bilateral frontoparietal and interhemispheric subdural haematomas (SDH). Abdominal ultrasonography revealed chronic renal failure due to bilateral large cystic kidneys. Brain MRI demonstrated Dandy-Walker malformation associated with hypoplastic vermis, in addition to the chronic subdural haematomas. This association of polycystic kidneys with Dandy-Walker malformation has been referred to as Goldston or cerebrorenal syndrome. The case is rare and is the first to be reported in an adult patient. The relevant literature is reviewed.