This paper records parts of dejerine and sottass description of the syndrome that bears their names. Periaxin prx plays a significant role in the myelination of the peripheral nerve. Read absence of mutations in peripheral myelin protein22, myelin protein zero, and connexin 32 in autosomal recessive dejerine sottas syndrome, neuroscience letters on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Dejerine sottas disease was initially soytas to be inherited as an autosomal recessive trait. Periaxin mutations cause recessive dejerinesottas neuropathy. We describe four clinical cases that attended external consultation of neurology andor entry into the neurology and neurosurgery department of the military central hospital of mexico city. Respiratory distress was the presenting feature in a 4monthold male infant suffering from dejerinesottas disease, an inherited sensorymotor polyneuropathy.
Dejerinesottas disease dsd was originally described as a hypertrophic polyneuropathy characterized by onset in infancy or early childhood in patients born to unaffected parents. Palsy refers to paralysis while brachial plexus is the network of nerves in. Charcotmarietooth disease cmt is a genetically heterogeneous group of inherited disorders characterized by severe peripheral neuropathy, affecting myelinated motor and sensory axons and leading to distal muscle weakness and atrophy. Both of her parents were examined clinically by nerve conduction velocities ncvs and emg, with normal results. Lupski1,2 departments of 1molecular and human genetics and 2pediatrics, baylor college of medicine, houston. Pdf periaxin mutations cause recessive dejerinesottas. It is a very rare neurological condition in which a stroke to the part of the human brain which controls sensation ie. With a fellowship granted by french and austrian vienna universities, i was at that time a student of augustas husband, professor jules dejerine. We studied a 33yearold woman with a negative family history. The amino acid change disrupts a unique disulphide bond.
Abnormal auditory evoked potentials in dejerinesottas disease. Jules dejerine 18491917 was a french neurologist who contributed to the description of numerous neurologic conditions ranging from neurovascular pathology to neuromuscular disorders. Clinical phenotypes of different mpz p0 mutations may. Dejerine sottas syndrome dss is an early onset demyelinating motor and sensory neuropathy with motor nerve conduction velocities below 12 m s. The ser149arg mutation of peripheral myelin protein 22 pmp22 was found in a 19yearold woman with a sporadic case of dejerine sottas disease. However, several mutations of dominant inheritance in the peripheral myelin protein 22 gene and the peripheral myelin protein zero gene have been encermedad in patients with dejerine sottas disease. There was increased conjunctive tissue with thickened bands of collagen fibers in the endoneurium. Dejerinesottas syndrome associated with point mutation in. Two cases of hereditary motor sensory neuropathy type iii dejerinesottas disease examined by audiological, vestibular and electrophysiological methods are reported.
Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies hnpp, charcotmarietooth disease cmt, dejerinesottas syndrome dss, and congenital hypomyelination ch. There are both autosomal dominant and autosomal recessive forms of dejerinesottas. A considerable body of his research was devoted to the peripheral nervous system. Chronic neuropathy presenting as a floppy infant with. In accordance with this, we identified three unrelated dejerinesottas neuropathy patients with recessive prx mutationstwo with compound heterozygous. At 7 years of age, the patient underwent an mr examination of the lumbar spine fig 1 for progressive lower extremity weakness. Anaesthetic management for a patient with dejerine.
Mr imaging of dejerinesottas disease american journal. Individuals with emerging dejerineroussy syndrome usually report they are experiencing unusual pain or sensitivity that can be allodynic in nature or triggered by seemingly unrelated stimuli sounds, tastes. Aug 26, 2010 we present a 3yearold girl with severe cmt1 dejerinesottas disease, who was a compound heterozygote carrying a deletion of the whole pmp22 and a deletion of exon 5 in the other pmp22 allele. Dejerinesottas disease with sensorineural hearing loss. Vincristine has been proven hazardous and should be avoided by all cmt patients, including. Motor and sensory neuropathies with the clinical features of hmsn iii dejerinesottas syndrome, dss are etiologically related. English spanish online dictionary term bank, translate words and terms with different pronunciation options. Dejerine sottas disease and hereditary demyelinating polyneuropathy of infancy. The clinical onset of her condition was at 24 months, with severe weakness and atrophy of her feet and hands, but the proximal muscles were relatively spared. Publication date 1922 topics egyptian language publisher paris, geuthner collection.
An electron microscopic study of hypertrophic neuropathy of. Jules dejerine and the peripheral nervous system neurology. Probably i am one of the few survivors who attended and remembers a solemn meeting of the society and admired its president. Clinical onset of her condition was with congenital weakness of her distal four extremities, accompanied by peripheral facial nerve weakness, deafness, and nystagmus. Human genome landmarks oak ridge national laboratory. The purpose of the present work was to describe a case of dejerine sottas disease. The term was initially used to describe a clinical phenotype characterized by symptom onset in the first two years of life, delayed motor development, hypotonia, and extremely slow nerve conduction. Dejerine sottas disease is a rare syndrome inherited as a recessive autosomal trait, with infantile onset and leading to disability at an early age. See also severe congenital hypomyelination, which shows phenotypic overlap with dss.
Dejerine sottas disease, myelin prelated hypomyelination, congenital nemaline myopathy, autosomal dominant lupus erythematosus, systemic, susceptibility neutropenia, alloimmune neonatal viral infections, recurrent antithrombin iii deficiency atherosclerosis, susceptibility to glaucoma tumor potentiating region nephrotic syndrome sjogren syndrome. We hypothesized that mutations in prx could cause human peripheral myelinopathies. The original descriptions of gombault and mallet, dejerine and sottas and a subsequent publication by dejerine 5 give a complete and thorough. Risk factors your risk is higher if you have family members with this disease.
This unusual but potentially benign disorder can be diagnosed upon peripheral nerve biopsy by noting extensive demyelination with onion bulb formation. Dejerinesottas disease in childhoodgenetic and sonographic heterogeneity. Contraindicated drugs the list below is taken from the website of the charcotmarietooth association, and is current as of april 2017. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. Know the causes, symptoms, treatment, prognosis of dejerine sottas. Given their low prevalence, mutations in other pathogenic genes should be investigated after discarding the previous ones.
Sottas dejerine dejerine sottas neuropathy hereditary motor and sensory polyneuropathy type iii a b s t r a c t the eponym dejerine sottas makes 21stcentury neurologists think of a form of heredity peripheral neuropathy leading to amyotrophy and secondary to a mutation of one of the many genes responsible for the formation of myelin. Dejerine sottas syndrome is a neurologic disorder in which the nerves get gradually damaged and become paralyzed to an extreme level. Dejerine sottas syndrome is also called dejerine sottas disease or onion bulb neuropathy or dejerine sottas neuropathy or progressive hypertrophic interstitial polyneuropathy of childhood. What is dejerineroussy syndrome or thalamic pain syndrome. We undertook a 12month doseescalation safety trial of oral curcumin in a 15yearold caucasian girl with dejerinesottas disease point mutation, ser72leu complicated by severe weakness, scoliosis, and respiratory impairment. Neurological examination at the age of 9 years revealed slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia.
A 32 year old woman with dejerine sottas disease and negative family history is reported. In both cases there were signs of vestibular and acoustic central pathway involvement, shown by vestibular examination and by the study of auditory evoked potentials. They include charcotmarietooth disease, dejerinesottas disease. Dejerine sottas disease was initially thought to be inherited as an autosomal recessive trait. Periaxin mutations cause recessive dejerine sottas neuropathy cornelius f. Pdf dejerinesottas disease in childhoodgenetic and. Know the causes, symptoms, treatment, prognosis, complications of dejerine roussy.
The fundamental clinical and pathologic findings associated with dejerinesottas disease were reported in a series of three communications at the turn of the century. Dejerine sottas disease, also known as, dejerine sottas neuropathy, progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy and, hereditary motor and sensory polyneuropathy type iii and charcotmarietooth disease type 3, is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting. One patient had spinal involvement with multiple thickened and clumped nerve roots of the cauda equina. The peripheral myelin protein 22 pmp22 is a tetraspan membrane. Dejerinesottas disease revisited jama neurology jama network. A patient is described with a dejerinesottas syndrome caused by a novel heterozygous cys98tyr mutation in the extracellular domain of the major peripheral myelin protein zero p0ex. The details of perioperative anaesthetic management are discussed including the use of epidural anaesthesia, with supplemental intravenous anaesthesia and an lma. Augusta dejerineklumpke annals of internal medicine. Dejerinesottas disease an overview sciencedirect topics. She had bilateral pes cavus, distal weakness and hypesthesia. Although these findings are not specific for dejerine sottas disease, they are suggestive of the.
The presence of central involvement in this hereditary. In the thalamic dejerine roussy syndrome there usually is a very small lesion. Abstract dejerine sottas disease dsd was originally described as a hypertrophic polyneuropathy characterized by onset in infancy or early childhood in patients born to unaffected parents. Hypertrophic neuropathy of dejerinesottas genetic and. Dejerinesottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Novel compound heterozygous nonsense prx mutations in a. Charcotmarietooth disease dejerine sottas disease refsums disease hereditary spastic paraplegia hereditary neuropathy with liability to pressure palsy familial amyloid neuropathy. The periaxin gene prx encodes two pdzdomain proteins, l and speriaxin, that are required for maintenance of peripheral nerve myelin. Curcumin is the newest therapeutic agent for ameliorating the clinical and neuropathologic phenotype of a mouse model of dejerinesottas disease. Dejerineroussy syndrome an overview sciencedirect topics. Symptoms are typically lateralized and may include vision loss or loss of balance position. The role of auditory brainstem response in diagnosing.
Charcotmarietooth disease cmt is a spectrum of nerve disorders named after the three physicians who first described it in 1886 jeanmartin charcot and pierre marie of france and howard henry tooth of the united kingdom. Homotypical interactions between p0ex tetramers of apposed extracellular faces of the schwann cell membrane play a crucial part in myelin compaction. The list below is taken from the website of the charcotmarietooth association, and is current as of april 2017. The salient pathologic observations made at that time regarding the characteristics of hypertrophic neuropathy occurring in infancy. Motor and sensory neuropathies with the clinical features of hmsn iii dejerine sottas syndrome, dss are etiologically related. They also provided the first account of central poststroke pain cpsp. Dejerine roussy secondary to isquemic cerebral infarction with gabapentine. Although these findings are not specific for dejerine sottas disease, they are suggestive of the diagnosis. In this area, the eponymous dejerinesottas syndrome refers to a form of infantile hereditary neuropathy. Dejerine sottas disease shares considerable clinical, electrophysiological and pathological characteristics with charcotmarietooth type 1. To date, seven nonsense or frameshift prx mutations have been reported in six pedigrees with dejerine sottas. Hypertrophic neuropathy of dejerinesottas genetic and rare. There is prominent enhancement in the left porous acousticus open arrow, c, enlargement and enhancement of the fifth cranial nerves in meckel.
Hypertrophic neuropathy of dejerinesottas dejerine sottas syndrome is a term sometimes used to describe a severe, early childhood form of charcotmarietooth disease sometimes called type 3 that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body. Dejerine sottas disease dsd was originally described as a hypertrophic polyneuropathy characterized by onset in infancy or early childhood in patients born to unaffected parents. Pdf dejerinesottas syndrome with early onset in childhood. Dejerine roussy syndrome or thalamic pain syndrome is also referred to as central pain syndrome cps. Erbduchenne and dejerine klumpke are palsies of the brachial plexus. Dejerine sottas disease in childhoodgenetic and sonographic heterogeneity. Dejerine sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. They suggested that pain is one of the primary symptoms of the syndrome, although one of their own. There are but three autopsies recorded, those of dejerine and sottas, 1 of dejerine and thomas 3 and the case of pierre marie studied by boveri.
It is pathologically characterized by a motor sensory neuropathy especially in distal nerves, hypomyelination and demyelination of the nerve fibers. The clinical classification of these neuropathies into discrete categories can sometimes be difficult. Dejerine sottas disease, also known as dejerine sottas syndrome, dejerine sottas neuropathy, progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy and, hereditary motor and sensory polyneuropathy type iii and charcotmarietooth disease type 3, is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting. This is a rare pediatric disorder with autosomal recessive inheritance that causes severe weakness and numbness, markedly enlarged peripheral nerves with onionbulb formation and markedly slowed conduction velocities. The disease was further described by dejerine and sottas 1893, in a brother and sister, as progressive hypertrophic interstitial neuritis of infancy. We report the mr findings in two patients with clinically and histologically proved dejerine sottas disease. Pdf dejerinesottas syndrome dss is a progressive hypertrophic. Mr imaging of dejerinesottas disease american journal of. Genetic studies are of value not only for diagnosing these diseases, but also for better understanding the molecular events that result in the bainhha symptoms. Novel mutation of the p0 extracellular domain causes a.
Mutations in genes expressed in schwann cells and the axons they ensheath cause the hereditary motor and sensory neuropathies known as charcotmarietooth cmt disease. Aug 28, 2012 hypertrophic neuropathy of dejerine sottas dejerine sottas syndrome is a term sometimes used to describe a severe, early childhood form of charcotmarietooth disease sometimes called type 3 that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body. Demyelinating, acquired sensorimotor or motor sensory polyneuropathy. Charcotmarietooth disease cmt download our charcotmarietooth disease cmt fact sheet.
The salient pathologic observations made at that time regarding the characteristics of hypertrophic. Sottas disease is a very uncommon degenerative disease of the peripheral nervous system. Their daughter was a teenager who later became mme. Ulnar nerve entrapment froments sign guyons canal syndrome ulnar claw. The phenotype is genetically heterogeneous, and autosomal dominant ad as well as autosomal recessive ar inheritance is described. Boerkoel, 1,hiroshi takashima, pawel stankiewicz,1 carlos a. Dejerine, one of the great clinical neurologists of contemporary times, was born in geneva of french parents. Dejerine sottas disease dsd comprises a genetically heterogeneous group of earlyonset demyelinating hereditary neuropathies. In this area, the eponymous dejerine sottas syndrome refers to a form of infantile hereditary neuropathy.
Periaxin mutation causes earlyonset but slowprogressive. At present, mutations in ten different genes have been identified, chromosomal localisation of many other distinct inherited neuropathies has been mapped, and new genetic causes for inherited neuropathies continue to be. The fundamental clinical and pathologic findings associated with dejerinesottas disease were reported in a series of three communications at the turn of the. Pmp22 related congenital hypomyelination neuropathy jnnp.
Dejerinesottas disease revisited jama neurology jama. Dejerinesottas disease wikipedia republished wiki 2. Onset in infancy, as seen by delays in motor milestones, severity of its features and motor nerve conduction velocities of dejerinesottas dejerine sottas syndrome is a term sometimes used to describe a severe, early childhood form of charcotmarietooth disease sometimes called type 3 that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards the limbs closest to the body. There is also evidence that mutations in the gjb1 gene may contribute to the phenotype. Sural nerve biopsy showed proliferation of schwann cells, extensive endoneural fibrosis, axon loss.
Dejerinesottas disease and hereditary demyelinating. Dejerinesottas disease, also known as, dejerinesottas neuropathy, progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy and, hereditary motor and sensory polyneuropathy type iii and charcotmarietooth disease type 3, is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting. Polyneuropathy should be considered in the differential diagnosis of infantile. He won the post of extern of the paris hospitals in 1872, intern in 1874, and the md degree and a silver medal in 1879, with a thesis on lesions of the nervous system in acute ascending. Charcotmarietooth disease cmt is a clinically and genetically heterogeneous disorder of the peripheral nervous system. The fundamental clinical and pathologic findings associated with dejerine sottas disease were reported in a series of three communications at the turn of the century.
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