Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation - case report.

BACKGROUND: To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. CASE PRESENTATION: Twenty two individuals from this family with paroxysmal extreme pain disorder were identified. Seven of them presented clinical manifestation of paroxysmal extreme pain disorder, of which and in four were identified missens mutations in the SCN9A gene (NM_002977.3:c.3892G > T). The onset of the disorder took place in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate with extreme pain, skin flushing and harlequin colour change were observed in all. Attacks of excruciating deep burning pain often appear in the rectal, or jaw areas, but also diffuse in the body. Attacks are triggered by factors such as: defecation, eating, pressure and emotion. Carbamazepine and other antiepileptic drugs were only partly effective in almost all, but the response was incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a hereditary sodium channelopathy with pain and an autonomic nervous system dysfunction. Paroxysmal extreme pain disorder is rare, so far only 500 cases of both women and men have been described in world literature.

[Mitoxantrone role in treatment of primary progressive multiple sclerosis]. / Role mitoksantronu w leczeniu postaci pierwotnie postepujacej stwardnienia rozsianego.

Multiple sclerosis is a chronic, autoimmunological disease of central nervous system in which axonal damage in brain and spinal cord is observed. It is second most common cause of disability in young adults in West Europe and North America after injuries. There is 2.5 million people suffered from multiple sclerosis worldwide. The worse prognosis is connected with primary progressive MS in which recovery after first symptoms of central nervous system damage isn't observed. That subtype of disease is seen in case of 10-20% people with MS. MTX is a synthetic antracycline with antineoplastic, immunomodulatory and anti-inflammatory effects. Drug was allowed to treatment of leukemia. It is also used in treatment of breast, prostate, ovarian, stomach and liver cancer. Additionally MTX is used in treatment of secondary progressive SM and relapsing - remitting subtype of disease with no respond to treatment with interferon beta and glatiramer acetate. MTX inhibits topoisomerase II activity, matches to DNA molecule and damage her structure. Drug inhibits limphocyte T, B and macrophages activity and antibodies synthesis. The most dangerous side effects of MTX treatment are cardiotoxicity and induction of leukemia. There is lack of studies describing MTX effectiveness and safety in treatment of primary progressive SM.

[The duration of the symptoms of carpal tunnel syndrome to the diagnosis]. / Czas trwania objawów zespolu ciesni kanalu nadgarstka do postawienia rozpoznania.

UNLABELLED: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy. Efficacy of the surgical treatment is dependent on the severity of median nerve injury. THE AIM OF STUDY: To determine the average duration of symptoms to diagnosis CTS. MATERIAL AND METHODS: Survey study conceming the duration of symptoms of CTS to establishing the diagnosis was conducted between 192 consecutive patients with CTS referred to the Electrophysiology Laboratory of the Military Institute of Medicine for the confirmatory EMG testing. The questionnaire included question concerning the duration of symptoms of neuropathy of the median nerve and the selected epidemiological data, i.e., gender, age, place of residence, profession, comorbidities, specialization of referring physician. Nerve conduction parameters of median and ulnarnerves were assessed by means of study ENG/EMG (amplitude, conduction velocity and final latency in motor fibers). Some of the patients had performed comparative tests of the median nerve and ulnar or radial nerves. On the basis of these values the severity of carpal tunnel syndrome was determined according to the Padua's classification. RESULTS: In the group of women surveyed duration of symptoms until diagnosis was on average 39,6 months (from 1 month to 20 years), while in men this time was on average 37.4 months (from I month to 7 years). CONCLUSIONS: The results of this study indicate that the average duration of symptoms CTS until diagnosis is long and can have a negative impact on the results of treatment.

[Myopathy in the course of carnitine palmitoyltransferase II deficiency]. / Miopatia w przebiegu niedoboru palmitylotransferazy karnityny II.

Congenital deficiency of carnitine palmitoyltransferase (CPT) II is a disease with an autosomal recessive inheritance of phenotypic variability which depends on age at the onset of symptoms. Three entities associated with deficiency of CPT II are known: the perinatal, the infantile and the adult form. The perinatal disease is the most severe form and is invariably fatal. On the other hand, the adult CPT II clinical phenotype is benign and requires additional external triggers such as high-intensity exercise to provoke myopathic symptoms. We report a case of adult CPT II deficiency presenting with the subtle symptoms of myopathy. A 32-year-old man was admitted to the hospital complaining of muscle pain after exercise. Athletic appearance drew attention, because the patient denied practicing sport. Neurological examination revealed marked tiredness during the single-leg hop test without other abnormalities. Electromyography (EMG) and serum biochemistry were not typical for myopathy. Routine histopathological examination did not reveal any abnormalities of structure of muscle fibers. Diagnosis was established after ultrastructural and biochemical analysis which revealed changes typical for CPT II deficiency.

Degenerative pontine lesions in patients with familial narcolepsy.

BACKGROUND AND PURPOSE: Narcolepsy is characterized by chronic excessive daytime sleepiness with episodic sleep attacks. There are several associated symptoms of narcolepsy: cataplexy (bilateral muscle weakness without loss of consciousness provoked by an emotional trigger, e.g. laughter), sleep paralysis and hypnagogic-hypnopompic hallucinations. Most cases are sporadic; familial narcolepsy contributes to only 1-5% of all cases. While most cases of narcolepsy are idiopathic and are not associated with clinical or radiographic evidence of brain pathology, symptomatic or secondary narcolepsy may occur occasionally in association with lesions caused by tumours, demyelination or strokes of the diencephalon, midbrain, and pons. There are some examples of non-specific brainstem lesions found in magnetic resonance imaging (MRI) in patients with idiopathic narcolepsy. MATERIAL AND METHODS: The authors present eleven patients from a five-generation family with many members who suffer from episodic excessive daytime sleepiness. Narcolepsy was diagnosed in 9 patients. Sleepiness was frequently associated with cataplexy, hypnagogic-hypnopompic hallucinations and sleep paralysis. Improvement in their clinical state was observed during the treatment with modafinil. All probands had MRI of the brain, routine blood tests, EEG, polysomnography, examination of the level of hypocretin in cerebrospinal fluid and evaluation by means of Epworth and Stanford Sleepiness Scales. RESULTS: In 9 patients with narcolepsy, decreased thickness of the substantia nigra was found and in six of them degenerative lesions in the pontine substantia nigra were also noticed. CONCLUSIONS: The significance of these changes remains unclear. No data have been published until now concerning the presence of any brain lesions in patients with familial narcolepsy.

[Compression neuropathy of cranial nerves in the course of Takayasu arteritis]. / Neuropatia z ucisku nerwów czaszkowych w przebiegu choroby Takayasu.

Takayasu arteritis is a rare vasculitis of the aorta and its branches. Neurological manifestation usually results from central nervous system ischaemia. We report a case presenting with unilateral paresis of the cranial nerves (V, IX and XII nerve) caused by a vascular conflict due to Takayasu arteritis. A 38-year-old male was admitted to the hospital complaining of dysarthria, dysphagia, numbness of the right side of the tongue and a headache localized behind the right eye. The symptoms had sudden onset. Neurological examination revealed isolated trigeminal, glossopharyngeal and hypoglossal nerve dysfunction on the right side without other neurological symptoms. Magnetic resonance angiography showed internal carotid artery dissection and prominent thickening of walls of both vertebral arteries as well as the left renal artery with narrowing of lumen. Compression of glossopharyngeal and hypoglossal nerves and the trigeminal ganglion was a result of a markedly dilated intracranial segment of the right carotid artery. The clinical and radiological findings were consistent with the diagnosis of Takayasu arteritis.