ABSTRACT
Peripheral neuropathy is one of the most common neurological conditions of the nervous system. Hereditary neuropathies (HNs) form an important group with varying degrees of severity, causing a significant disease burden. Accurate diagnosis is essential for management, counseling, and preventing unnecessary extended workups for acquired etiologies and inappropriate treatment. Several hereditary neuropathies have characteristic or diagnostic histologic findings; however, in the era of molecular diagnostics, the role of nerve biopsy in the diagnosis of hereditary neuropathy has reduced significantly. Nevertheless, in sporadic cases, cases without a clear family history, clinical mimics, cases with rare mutations, and genetic variants of unknown significance, a nerve biopsy can confirm the diagnosis, provide an unexpected diagnosis, or direct a targeted molecular testing. HN may be non-syndromic, affecting predominantly the peripheral nervous system or syndromic where it is a part of more widespread neurological or multisystem involvement. This review summarizes the microscopic pathological features in a nerve biopsy in some of the more commonly encountered inherited peripheral neuropathies highlighting their utility in selected cases.
ABSTRACT
La enfermedad de Charcot-Marie-Tooth es una afección degenerativa del sistema nervioso periférico, que presenta gran heterogeneidad genética y clínica. La presentación con patrón autosómico dominante, conocida en algunas clasificaciones como de tipo 1, es la más frecuente; asimismo, la confección del árbol genealógico resulta ser el instrumento de mayor importancia para conocer el tipo de herencia. A tales efectos, se describen 2 casos clínicos pertenecientes a una familia con 35 miembros afectados por este trastorno neurológico, atendidos en el Centro Provincial de Genética Médica de Santiago de Cuba.
Charcot-Marie-Tooth disease is a degenerative affection of the peripheral nervous system that presents great genetic and clinic heterogeneity. The presentation with autosomal dominant pattern, well-known in some classifications as type I, is the most frequent; also, the making of the genealogical tree turns out to be the most important instrument to know the inheritance type. To such effects, 2 case reports belonging to a family with 35 members affected by this neurological dysfunction are described, assisted in the Provincial Center of Medical Genetics in Santiago de Cuba.
Subject(s)
Hereditary Sensory and Motor Neuropathy , Charcot-Marie-Tooth DiseaseABSTRACT
ABSTRACT The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.
RESUMO A neuropatia hereditária com susceptibilidade à pressão (HNPP) é uma doença autossômica dominante que manifesta mononeuropatias recorrentes. Objetivo Avaliar as características clínicas e os estudos da condução nervosa (ECN) procurando particularidades diagnósticas. Método Revisamos as características clínicas de 39 e os ECN de 33 pacientes. Resultados História familiar ausente em 16/39 (41%). As manifestações iniciais foram: fraqueza em 24, dor em 6, déficit sensitivo em 5 e parestesias em 4. Dor foi referida por outros 3 pacientes. Os seguintes padrões de neuropatia foram observados: mononeuropatia múltipla (26), mononeuropatia (6), polineuropatia sensitivo-motora (4), polineuropatia sensitiva (1) e plexopatia braquial unilateral (1). Os ECN mostraram uma neuropatia sensitivo-motora com redução focal da velocidade de condução em 31, dois tinham mononeuropatia e outro plexopatia braquial. Conclusão A apresentação da HNPP é variável e pode incluir dor. O padrão mais frequente é o de uma neuropatia sensitivo-motora assimétrica com alentecimentos focais da condução em topografias específicas nos ECN.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Young Adult , Chromosomes, Human, Pair 17/genetics , Gene Deletion , Peripheral Nervous System Diseases/physiopathology , Neural Conduction/physiology , Paralysis , Paresthesia/etiology , Pressure , Sensation Disorders/etiology , Peripheral Nervous System Diseases/genetics , Neuralgia/etiologyABSTRACT
Objective To explore the clinical , EMG and genetic characteristics of children with hereditary neuropathy with liability to pressure palsies phenotype (HNPP).Methods One case of HNPP diagnosed by gene were reported, and combined with the literature , the clinical, electromyography and genetic characteristics were summarized.Results Female patient, 11 years and 8 months, left foot could not be dorsal flexion and numbness appeared after the movement in 10 d before admission ,EMG showed multiple peripheral nerve injury .Patient's father and uncle were very similar to the history .Genetic examination showed 1363.2 kb heterozygous deletion on the chr17:14095421 -15458636, and the diagnosis was HNPP .Conclusions When limb weakness happened in children after slight stretch or compression , perform EMG examination as early as possible .Children with extensive peripheral nerve damage , limited limb paralysis , and a similar family history , should pay attention to HNPP , and gene examination should be given .
ABSTRACT
Introducción. La neuropatía hereditaria con susceptibilidad a la parálisis por presión (NHPP) es una enfermedad genética que afecta fundamentalmente al componente mielínico de los nervios periféricos. Este estudio pretende describir detalladamente tres casos no emparentados familiarmente, así como realizar una revisión bibliográfica actualizada sobre el tema. Casos clínicos. Pacientes de 23, 42 y 41 años estudiados por sospecha de neuropatía cubital (casos 1 y 2) y de síndrome del túnel carpiano bilateral (caso 3). Resultados. Los estudios neurofisiológicos mostraron la existencia de una polineuropatía sensitivo-motora de predominio desmielinizante y mayor intensidad en localizaciones susceptibles al atrapamiento nervioso. El estudio genético confirmó en todos ellos la existencia de una deleción a nivel del gen PMP22 (cromosoma 17p11.2). Conclusiones. Esta neuropatía hereditaria puede simular una simple neuropatía compresiva, estando por ello infradiagnosticada. Una anamnesis completa, así como un riguroso estudio neurofisiológico son fundamentales para una orientación diagnóstica adecuada.
Introduction. Hereditary neuropathy with liability to pressure palsy (HNPP) is a genetic disease that primarily affects the myelin of peripheral nerves. This study aims to describe in detail three cases with no familiar blood-ties and do an updated literature review on the topic. Clinical cases. 23, 42 and 41 years old patients studied for suspected ulnar neuropathy (cases 1 and 2) and bilateral carpal tunnel (case 3) syndrome. Results. The electromyographic examination revealed the existence of a sensory-motor demyelinating polyneuropathy of greater intensity in locations susceptible to nerve entrapment. The genetic study confirmed in all patients the existence of a deletion at the level of PMP22 gene (chromosome 17p11.2). Conclusions. This hereditary neuropathy can simulate a simple compressive neuropathy. Therefore it is underdiagnosed. A thorough anamnesis and a rigorous neurophysiological study are essential in a proper diagnostic orientation.
ABSTRACT
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible.
Subject(s)
Aged , Female , Humans , Diagnosis , Electrophysiology , Nerve Compression Syndromes , Neuromuscular Diseases , Paralysis , Peripheral Nerves , UltrasonographyABSTRACT
Aims: To present the case of a patient with early-onset demyelinating neuropathy due to a MPZ-mutation, associated with deafness and inclusion-body-myopathy. Methods: Nerve conduction studies, electromyography, muscle biopsy, genetic testing. Results and Discussion: In a 46yo male with slowly progressive weakness and wasting since childhood initially of the lower and later also of the distal upper-limbs, ptosis, recurrent hyper-CK-emia, and progressive hearing impairment, nerve conduction studies revealed mixed demyelinating and axonal polyneuropathy and electromyography revealed neurogenic motor unit architecture. Nerve biopsy disclosed diffuse loss of myelinated fibers, reduced diameter of non-myelinated fibers, and fibers with hypomyelination and variable internodal myelination. Muscle biopsy revealed classical features of inclusion-body-myopathy. Upon genetic diagnostic work-up the MPZ-mutation c.320A>T, p.Glu107Val was detected. Since his son presented with a similar phenotype, inclusion-body-myopathy was interpreted as secondary to the neuropathy. Conclusions: CMT1B may show secondary axonal loss and mild clinical manifestations despite early onset. CMT1B may be associated with severe hearing impairment and collateral inclusion-body-myopathy.
ABSTRACT
The purpose of the present study was to elucidate genealogical and clinical features of hereditary neuropathy in the several kindreds of Gobi-Altai province.Materials and Methods: In the present study, we investigated five kindreds originated from Bayan-Uul sum, Gobi-Altai province on the basis of previous surveys. Each participant was enrolled for genealogical and neurological examinations according to specific questionnaire. We also collected biological samples for further genetic study. Genomic DNA was isolated from biological samples, and quantitative analysis of DNA was determined by spectrophotometer and Picogreen assays.Results: Twenty members from five kindreds were investigated. Genealogical analysis revealed that there is a linkage between two kindreds within the families enrolled into study, whereas no association was revealed among the other pedigrees. As a phenotype of the hereditary neuropathy, the clinical features were inherited in every generation, and the inheritance was not dependent on the gender. In neurological examination, age of hereditary neuropathy onset was detected as follows. The clinical features appeared in the first decade of life in 4 patients, in the second decade of life in 5 patients, and for the other members the disease started in the age of over 20 years. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Interestingly five female patients had similar gynecological problems. Conclusions:1. The hereditary neuropathy exists in the kindreds of Bayan-Uul sum, Gobi-Altai province and the type of inheritance could be categorized as autosomal dominant.2. Onset of hereditary neuropathy disease was started mostly in the second decade of life. Common clinical features of hereditary neuropathy were characterized by hypomimic- and mask shape face, muscular atrophy of upper and lower limbs, and pes cavus. Apart from general clinical features, the specific complications related to metabolic disorders and pregnancy was detected.
ABSTRACT
Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1) or axonal (CMT2). OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.
A doença de Charcot-Marie-Tooth (CMT) é uma neuropatia hereditária de acometimento sensitivo e motor de predomínio distal. Atrofia e fraqueza em membros inferiores são os primeiros sinais da doença. Pode ser classificada, com auxílio da eletroneuromiografia, em desmielinizante (CMT1) ou axonal (CMT2). OBJETIVO: Investigação clínica e neurofisiológica de família com portadores de CMT2 de herança dominante. MÉTODO: Foi feita avaliação neurológica de 50 indivíduos e eletroneuromiografia em 22 pacientes. RESULTADOS: Trinta indivíduos tinham sinais clínicos de neuropatia sensitivo-motora. Sinal de Babinski estava presente em 14 indivíduos. A eletroneuromiografia demonstrou polineuropatia axonal sensitiva e motora. CONCLUSÃO: As características clínicas e neurofisiológicas desta família não se diferem das observadas em outras formas de CMT, exceto pela alta prevalência de sinal de Babinski.
Subject(s)
Adolescent , Adult , Aged , Child , Female , Humans , Male , Middle Aged , Charcot-Marie-Tooth Disease/physiopathology , Pyramidal Tracts/physiopathology , Charcot-Marie-Tooth Disease/genetics , Electromyography/methods , Genetic Linkage/genetics , Pedigree , PhenotypeABSTRACT
Objective: To explore the neurophysiological properties of hereditary neuropathy with liability to pressure palsies (HNPP), so as to provide evidence for the diagnosis of HNPP. Methods: Three families (8 individuals) with clinically affected and asymptomatic HNPP patients underwent routine electrodiagnostic tests, including median, ulnar, radial, tibial and proneal motor and sensory nerve conduction, and the results: were compared with those of 30 healthy subjects. Results (1) Prolongation of the distal nerve conduction latencies was the most seen abnormality (92.1%), mainly found in the median and common peroneal nerves, including those with and without symptoms. (2) The rate of motor nerve conduction slowing was 63.2%, mostly seen in the median and common peroneal nerves. (3)The rate of sensory nerve conduction slowing was 89.6%, mostly affecting the sural and median nerves. (4)The conduction block of the ulnar nerve at the elbow was more commonly seen than that of the proneal nerve at the fibular head. Conclusion: Neurophysiological examination is a noninvasive, fast, simple and accurate diagnosis way for clinically suspected HNPP patients, and it can be used for screening the family members of HNPP patients and for prevention of HNPP.
ABSTRACT
Antecedentes: La neuropatía periférica de Charcot-Marie-Tooth (CMT) es la enfermedad hereditaria más común del sistema nervioso periférico humano. El subtipo más frecuente, CMT1A, es asociado a una duplicación de un fragmento de ~1.5 Mb en 17p11.2-p12, que incluye al gen PMP22. Objetivo: Describir diferentes estrategias para el diagnóstico clínico y molecular de CMT1A en pacientes del Instituto Nacional de Rehabilitación. Material y métodos: A 17 pacientes estudiados clínica y electrofisiológicamente que reunieron los criterios para CMT1, se les realizó el estudio molecular mediante electroforesis capilar para detectar la duplicación del gen PMP22. Resultados: Los estudios clínico, bioquímico y electrofisiológico ofrecieron los criterios para establecer el diagnóstico de CMT1. Con la electroforesis capilar se detectó la duplicación del gen PMP22 en siete pacientes que fueron diagnosticados clínica y electrofisiológicamente como CMT1, pudiendo llegar al diagnóstico de CMT1A. Todas las duplicaciones identificadas fueron corroboradas mediante hibridación in situ fluorescente. Conclusión: Los resultados nos permiten asegurar que la electroforesis capilar es un método fácil y confiable para detectar la duplicación del gen PMP22. Además, el aplicar diferentes estrategias tanto clínicas, electrofisiológicas y moleculares en este tipo de pacientes, nos permitieron establecer el diagnóstico correcto y ofrecer asesoramiento genético adecuado.
BACKGROUND: Charcot-Marie-Tooth (CMT) is the most common inherited disorder of the human peripheral nerve. The mos tfrequent subtype, CMT1A, is associated with duplication of approximately 1.5 Mb fragment in 17p11-p12, that includes the PMP22 gene. OBJECTIVE: The aim of this study was to describe different strategies used for clinical and molecular CNT1A diagnoses among patients attending the National Rehabilitation Institute of Mexico (INR). MATERIAL AND METHODS: 17 patients had clinical and electrophysiological features compatible with CMT1. A molecular study using capillary electrophoresis (CE) was performed and a PMP22 gene duplication was detected RESULTS: Clinical, biochemical and electrophysiological studies constituted the inclusion criteria to establish a CMT1 diagnosis. With CE the duplication of the PMP22 gene was observable and we established a possible CMT1A diagnosis in seven patients. All duplications detected by capillary electrophoresis were corroborated using FISH. CONCLUSION: CE is a feasible and reliable method to detect PMP22 gene duplication. Using different clinical, electrophysiological and molecular strategies in this patient population allowed us to establish an accurate diagnosis and offer suitable genetic counseling.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Charcot-Marie-Tooth Disease/diagnosis , Charcot-Marie-Tooth Disease/blood , Charcot-Marie-Tooth Disease/genetics , Charcot-Marie-Tooth Disease/physiopathology , Mexico , Prospective Studies , Molecular Diagnostic Techniques/methodsABSTRACT
We report a 15-year-old girl with hereditary neuropathy with liability to pressure palsy (HNPP), whose electrophysiological features mimicked Charcot-Marie-Tooth disease 1A. Her mother was asymptomatic, but a nerve conduction study was compatible with HNPP. Molecular analysis confirmed the deletion of chromosome 17p11.2 in both patients. Our case suggests that HNPP has more diverse electrophysiological features than reported so far.
Subject(s)
Adolescent , Female , Humans , Charcot-Marie-Tooth Disease , Electrodiagnosis , Mothers , Neural Conduction , ParalysisABSTRACT
BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) and Charcot-Marie-Tooth1A (CMT1A) are autosomal dominant inherited demyelinating neuropathy associated with the deletion or duplication of 17p11.2-p12 segments including the gene for peripheral myelin protein 22 (PMP22). The aim of this study is to compare the electrophysiological features of these two disorders genetically related. METHODS: We studied the nerve conduction studies of genetically confirmed 43 HNPP in 23 families and 31 CMT1A patients in 13 families. RESULTS: Nerve conduction studies presented prolonged terminal latency, slow nerve conduction velocity and low amplitude of compound muscle or nerve action potentials in both diseases, but more severe in CMT1A. The incidence of conduction block with or without dispersion was higher in CMT1A than HNPP, with 23.6% and 5.7% respectively. CMT1A revealed a rather even distribution of abnormalities in segmental nerve conduction studies than HNPP. HNPP showed frequent involvements at the segment of entrapment-prone site such as peroneal and ulnar nerves. The characteristical differences of these diseases could be defined by the quantitative correlation study. The correlation coefficients of nerve conduction velocities between tested nerves in the same or different limbs and between tested segments of the same nerve was much higher in CMT1A than HNPP. CONCLUSIONS: We conclude that CMT1A presents with more severe diffuse and uniform slowing, whereas HNPP presents with focal electrophysiological abnormalities.
Subject(s)
Humans , Action Potentials , Extremities , Incidence , Myelin Sheath , Neural Conduction , Paralysis , Statistics as Topic , Ulnar NerveABSTRACT
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients with duplication of the PMP22 develop Charcot-Marie-Tooth disease type 1A (CMT1A) and deletion of one PMP22 allele leads to hereditary neuropathy with liability to pressure palsy (HNPP). Twenty patients with CMT1A, 17 patients with HNPP, and 18 normal family members and 28 normal controls were studied by real-time quantitative PCR using SYBR Green I on the ABI 7700 Sequence Detection System. The copy number of the PMP22 gene was determined by the comparative threshold cycle method and the albumin was used as a reference gene. The PMP22 duplication ratio ranged from 1.45 to 2.06 and the PMP22 deletion ratio ranged from 0.42 to 0.64. The PMP22 ratio in normal controls, including normal family members, ranged from 0.85 to 1.26. No overlap was found between patients with CMT1A or patients with HNPP and normal controls. This method is fast, highly sensitive, specific, and reproducible in detecting PMP22 duplication and deletion in CMT1A and HNPP patients, respectively.
Subject(s)
Female , Humans , Male , Charcot-Marie-Tooth Disease/diagnosis , Chromosomes, Human, Pair 17 , Family Health , Fluorescent Dyes/pharmacology , Gene Deletion , Gene Duplication , Hereditary Sensory and Motor Neuropathy/genetics , Membrane Proteins/biosynthesis , Organic Chemicals/pharmacology , Paralysis/genetics , Peripheral Nervous System Diseases/genetics , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
BACKGROUND: Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral nerve disorder characterized by autosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings (tomacula) of myelin sheaths in nerve biopsy. A 1.5-Mb deletion in chromosome 17p11.2- p12 is present in the majority but not all cases of HNPP. The aim of the present study was to evaluate the clinical, electrophysiological and morphological aspects of HNPP patients associated with chromosome 17p11.2-p12 deletion. METHODS: To detect the presence of the deletion, the DNA of the patients was analyzed with pVAW409R3 (D17S122). An electrophysiological study was done in all patients. Sural nerve biopsy with teasing was done in three patients. RESULTS: DNA analysis and electrophysiological tests revealed the deletion in 8 families and 16 patients. Nerve conduction studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities especially worse over the common entrapment sites, regardless of clinical manifestations. The long duration of compound muscle and nerve action potentials without conduction blocks or dispersion is characteristic of patients with HNPP. The tomacula of myelin sheaths was found on sural nerve teasing. CONCLUSIONS: We report the clinical, electrophysiological and morphological aspects of the Korean HNPP patients associated with chromosome 17p11.2-p12 deletion. (J Korean Neurol Assoc 19(3):251~259, 2001)
Subject(s)
Humans , Action Potentials , Biopsy , DNA , Myelin Sheath , Neural Conduction , Paralysis , Peripheral Nerves , Sural Nerve , WillsABSTRACT
BACKGROUND: Hereditary neuropathy with liability to pressure palsies (HNPP) is a peripheral nerve disorder characterized by autosomal dominant inheritance, recurrent pressure palsies, reduced motor and sensory conduction velocities and sausage-like swellings (tomacula) of myelin sheaths in nerve biopsy. A 1.5-Mb deletion in chromosome 17p11.2- p12 is present in the majority but not all cases of HNPP. The aim of the present study was to evaluate the clinical, electrophysiological and morphological aspects of HNPP patients associated with chromosome 17p11.2-p12 deletion. METHODS: To detect the presence of the deletion, the DNA of the patients was analyzed with pVAW409R3 (D17S122). An electrophysiological study was done in all patients. Sural nerve biopsy with teasing was done in three patients. RESULTS: DNA analysis and electrophysiological tests revealed the deletion in 8 families and 16 patients. Nerve conduction studies demonstrated diffuse mild to moderate slowing of nerve conduction velocities especially worse over the common entrapment sites, regardless of clinical manifestations. The long duration of compound muscle and nerve action potentials without conduction blocks or dispersion is characteristic of patients with HNPP. The tomacula of myelin sheaths was found on sural nerve teasing. CONCLUSIONS: We report the clinical, electrophysiological and morphological aspects of the Korean HNPP patients associated with chromosome 17p11.2-p12 deletion. (J Korean Neurol Assoc 19(3):251~259, 2001)
Subject(s)
Humans , Action Potentials , Biopsy , DNA , Hemifacial Spasm , Microvascular Decompression Surgery , Myelin Sheath , Neural Conduction , Paralysis , Peripheral Nerves , Sural Nerve , WillsABSTRACT
We report a family with autosomal dominant hereditary neuropathy having a liability to pressure palsy, which was confirmed by DNA analysis. A 5-year-old boy had been suffering from a left upper extremity weakness after falling sleeping with his head on his arm. Upon examination 2 months after the episode, the boy reported that he had a mild weakness on the left distal portion of his arm. Deep tendon reflexes on both the upper extremities were absent. He did not have any sensory disturbances. No definite family history of recurrent pressure palsy was taken. A nerve conduc-tion study and EMG demonstrated a widespread demyelinating sensorimotor polyneuropathy in all extremities. We analyzed DNA deletion, which revealed an abnormal deletion of the peripheral myelin protein 22 (PMP-22) gene in the chromosome 17p11.2. Of the patient and his mother.
Subject(s)
Child, Preschool , Humans , Male , Arm , DNA , Extremities , Head , Mothers , Myelin Sheath , Paralysis , Polyneuropathies , Reflex, Stretch , Upper ExtremityABSTRACT
We report a family with autosomal dominant hereditary neuropathy having a liability to pressure palsy, which was confirmed by DNA analysis. A 5-year-old boy had been suffering from a left upper extremity weakness after falling sleeping with his head on his arm. Upon examination 2 months after the episode, the boy reported that he had a mild weakness on the left distal portion of his arm. Deep tendon reflexes on both the upper extremities were absent. He did not have any sensory disturbances. No definite family history of recurrent pressure palsy was taken. A nerve conduc-tion study and EMG demonstrated a widespread demyelinating sensorimotor polyneuropathy in all extremities. We analyzed DNA deletion, which revealed an abnormal deletion of the peripheral myelin protein 22 (PMP-22) gene in the chromosome 17p11.2. Of the patient and his mother.