Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 22
Filtrar
1.
Cureus ; 16(4): e59302, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38813296

RESUMO

Healthcare costs in the United States (US) exceed those of comparable nations without yielding better outcomes. Factors contributing to this include lack of cost transparency, limited outpatient resources due to primary care provider shortages, and high patient volumes, where patients are not educated on differentials and the stepwise process of workup. Addressing these issues could curb unnecessary hospitalizations and expenses. A 31-year-old woman with hypertension, alcohol use, anemia, and obesity experienced paresthesias in September 2022. At her first visit, the exam was consistent with decreased bilateral plantar sensation; however, there was no weakness or gait abnormality. This was not consistent with a focal neurologic distribution. Despite multiple ER visits, her condition persisted. Initial evaluations included potassium replacement ($80 for labs, $13 for tablet), nonacute head CT ($1500), and benign CT L-spine ($2500). Subsequent hospitalization led to brain MRI/MRA head/neck ($6700) and serum workup ($240), revealing deficiencies in vitamin D, folate, and B12. Treatment involved prednisone taper ($30) and supplemental vitamins ($35), with lifestyle recommendations ($0). After evaluating CompuNet lab costs and equivalent market imaging prices, potential savings exceeding $15,000 were identified through more focused and cost-conscious initial testing including vitamin studies and outpatient management, reducing hospitalizations and imaging expenses. Rising healthcare costs in the US are driven by various factors, yet fail to correlate with improved outcomes. Our case argues that enhancing access to primary care, promoting cost transparency, and educating patients on healthcare decisions are crucial for mitigating excessive spending.

2.
Reumatol. clín. (Barc.) ; 19(8): 409-411, oct. 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-225839

RESUMO

La sensibilidad de las artistas plásticas ante el sufrimiento humano ha quedado plasmada de diversas maneras. Este artículo relata las circunstancias que llevaron a la pintora surrealista hispano-mexicana, Remedios Varo, a representar en forma original las 2 manifestaciones cardinales de la fibromialgia: dolor generalizado e insomnio. (AU)


The sensitivity of plastic artists to human suffering has been expressed in different ways. This article recounts the circumstances that led the Spanish-Mexican surrealist painter, Remedios Varo, to depict in an original way the 2 cardinal manifestations of fibromyalgia; widespread pain and insomnia. (AU)


Assuntos
Humanos , Feminino , Pintura/efeitos adversos , Fibromialgia , Dor , Distúrbios do Início e da Manutenção do Sono , Parestesia , México , Espanha
3.
Cureus ; 15(7): e42137, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37602027

RESUMO

Schwannomas are rare peripheral nerve tumors that can present with diverse clinical manifestations. They commonly present as solitary, encapsulated masses and can occur in various locations throughout the body. This case report presents a comprehensive analysis of a peripheral schwannoma in a 29-year-old male patient who presented with numbness, pain, and paresthesias on the plantar aspect of the left foot. The symptoms progressively worsened, impacting the patient's daily activities. Physical examination revealed tenderness on the medial aspect of the left foot, along with prolonged episodes of paresthesia and recurrent numbness. Imaging studies confirmed the presence of a retro-malleolar mass, consistent with a peripheral schwannoma. The patient underwent successful surgical excision of the mass, resulting in complete resolution of symptoms. This case emphasizes the importance of considering peripheral schwannomas in the differential diagnosis of patients presenting with foot symptoms and highlights the effectiveness of surgical excision as a treatment modality for these tumors.

4.
Cureus ; 15(6): e39889, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37404443

RESUMO

Vitamin B12 deficiency is known to cause a variety of symptoms, including megaloblastic anemia, glossitis, and neuropsychiatric disorders. This case report describes a patient who presented with cognitive decline, psychosis, and seizures due to a severe vitamin B12 deficiency. Following treatment with vitamin supplementation therapy, the patient's condition significantly improved. The literature has also documented similar neuropsychiatric manifestations of vitamin B12 deficiency, highlighting the potential for symptom reversal with prompt and appropriate treatment. Therefore, early diagnosis and treatment of vitamin B12 deficiency are critical to preventing potentially irreversible neurological damage.

5.
Reumatol Clin (Engl Ed) ; 19(8): 409-411, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37460361

RESUMO

The sensitivity of plastic artists to human suffering has been expressed in different ways. This article recounts the circumstances that led the Spanish-Mexican surrealist painter, Remedios Varo, to depict in an original way the two cardinal manifestations of fibromyalgia; widespread pain and insomnia.


Assuntos
Fibromialgia , Distúrbios do Início e da Manutenção do Sono , Humanos , Distúrbios do Início e da Manutenção do Sono/etiologia , Dor , México
6.
Cureus ; 14(7): e26495, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35782589

RESUMO

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best-known monogenic small vessel disease. This disease is caused by a genetic mutation in the neurogenic locus notch homolog protein 3 (NOTCH3) gene, inherited as an autosomal dominant trait, the presence of which confirms the diagnosis of CADASIL. Clinically, it can express itself in a variety of symptoms, including migraine with aura, mood disturbance, vascular dementia, ischemic stroke, and premature death. This case reports a 69-year-old man who was admitted for an etiological study of paresthesias and was later confirmed with a diagnosis of CADASIL with a NOTCH3 mutation.

7.
J Neurosurg ; 136(4): 1119-1127, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-34624867

RESUMO

OBJECTIVE: Tumors compressing the trigeminal nerve can cause facial pain, numbness, or paresthesias. Limited data exist describing how these symptoms change after resection and what factors predict symptom improvement. The objective of this study was to report trigeminal pain and sensory outcomes after tumor resection and identify factors predicting postoperative symptom improvement. METHODS: This retrospective study included patients with tumors causing facial pain, numbness, or paresthesias who underwent resection. Trigeminal schwannomas were excluded. Logistic regression, recursive partitioning, and time-to-event analyses were used to report outcomes and identify variables associated with facial sensory outcomes. RESULTS: Eighty-six patients met inclusion criteria, and the median follow-up was 3.1 years; 63 patients (73%) had meningiomas and 23 (27%) had vestibular schwannomas (VSs). Meningioma patients presented with pain, numbness, and paresthesias in 56%, 76%, and 25% of cases, respectively, compared with 9%, 91%, and 39%, respectively, for patients with VS. Most meningioma patients had symptoms for less than 1 year (60%), whereas the majority of VS patients had symptoms for 1-5 years (59%). The median meningioma and VS diameters were 3.0 and 3.4 cm, respectively. For patients with meningiomas, gross-total resection (GTR) was achieved in 27% of patients, near-total resection (NTR) in 29%, and subtotal resection (STR) in 44%. For patients with VS, GTR was achieved in 9%, NTR in 30%, and STR in 61%. Pain improved immediately after tumor resection in 81% of patients and in 92% of patients by 6 weeks. Paresthesias improved immediately in 80% of patients, increasing to 84% by 6 weeks. Numbness improved more slowly, with 52% of patients improving immediately, increasing to 79% by 2 years. Pain recurred in 22% of patients with meningiomas and 0% of patients with VSs. After resection, the Barrow Neurological Institute (BNI) facial pain intensity score improved in 73% of patients. The tumor diameter significantly predicted improvement in BNI score (OR 0.47/cm larger, 95% CI 0.22-0.99; p = 0.047). Complete decompression of the trigeminal nerve was associated with qualitative improvement in pain (p = 0.037) and decreased pain recurrence (OR 0.08, 95% CI 0.01-0.67; p = 0.024). CONCLUSIONS: Most patients with facial sensory symptoms caused by meningiomas or VSs experienced improvement after resection. Surgery led to immediate and sustained improvement in pain and paresthesias, whereas numbness was slower to improve. Patients with smaller tumors and complete decompression of the trigeminal nerve were more likely to experience improvement in facial pain.


Assuntos
Neoplasias Meníngeas , Neuroma Acústico , Nervo Facial/cirurgia , Dor Facial/etiologia , Dor Facial/cirurgia , Seguimentos , Humanos , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/cirurgia , Neuroma Acústico/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Nervo Trigêmeo/cirurgia
9.
Internist (Berl) ; 61(3): 243-253, 2020 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-32086529

RESUMO

Approximately one of three people with diabetes is affected by distal symmetric sensorimotor polyneuropathy (DSPN) which is associated with marked impairment in quality of life due to partly excruciating neuropathic pain on the one hand and painless foot ulcers on the other hand. The prevalence of painful DSPN may reach up to one quarter of patients with diabetes, while DSPN may be asymptomatic in up to half of the patients affected. Regrettably, DSPN still remains underdiagnosed. Typical neuropathic symptoms include pain, paresthesias and numbness particularly in the feet and calves. The management of DSPN includes three cornerstones: (1) lifestyle modification, causal treatment aimed at near-normoglycemia and multifactorial cardiovascular risk intervention, (2) pathogenesis-derived treatment and (3) symptomatic treatment of neuropathic pain. Multimodal pain treatment should not only aim at pain relief, but also allow for improvement in quality of sleep, mobility, and general quality of life.


Assuntos
Complicações do Diabetes , Diabetes Mellitus , Neuropatias Diabéticas/terapia , Neuralgia , Polineuropatias/terapia , Qualidade de Vida , Animais , Bovinos , Neuropatias Diabéticas/psicologia , Humanos , Polineuropatias/psicologia , Prevalência
10.
Cureus ; 11(2): e4084, 2019 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-31019862

RESUMO

Spinal epidural abscesses are insidious infections spread via hematologic, contiguous, or iatrogenic routes. On average, spinal epidural abscesses span two to four vertebral segments and are most commonly localized to the thoracic region. Fever, back pain, and neurological deficits are the most common clinical manifestations. However, the triad of these findings are not always detected. Patients may present with subtle symptoms leading to misdiagnosis and poor prognosis. We present a case of a large, anteriorly located, spinal epidural abscess in a patient originally admitted for dyspnea and confusion.

11.
Hand (N Y) ; 14(2): 163-171, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-29020829

RESUMO

BACKGROUND: Carpal tunnel syndrome has been associated with sleep position preferences. The aim of this study is to assess self-reported nocturnal paresthesias and sleeping position in participants with and without carpal tunnel syndrome diagnosis to further clinical knowledge for preventive and therapeutic interventions. METHODS: A cross-sectional survey study of 396 participants was performed in young adults, healthy volunteers, and a patient population. Participants were surveyed on risk factors for carpal tunnel syndrome, nocturnal paresthesias, and sleep preferences. Binary logistic regression analysis was performed comparing participants with rare and frequent nocturnal paresthesias. Subanalyses for participants without carpal tunnel syndrome under and over 21 years of age were performed on all factors significantly associated with subclinical compression neuropathy in the overall population. RESULTS: Thirty-three percent of the study population experienced nocturnal paresthesias at least weekly. Increased body mass index ( P < .001) and sleeping with the wrist flexed ( P = .030) were associated with a higher frequency of nocturnal paresthesias. Side sleeping was associated with less frequent nocturnal symptoms ( P = .003). In participants without carpal tunnel syndrome, subgroup analysis illustrated a relationship between nocturnal paresthesias and wrist position. In participants with carpal tunnel syndrome, sleeping on the side had a significantly reduced frequency of nocturnal paresthesias. CONCLUSION: This study illustrates nocturnal paresthesias in people without history of carpal tunnel syndrome including people younger than previously reported. In healthy patients with upper extremity subclinical compression neuropathy, sleep position modification may be a useful intervention to reduce the frequency of nocturnal symptoms prior to developing carpal tunnel syndrome.


Assuntos
Parestesia/fisiopatologia , Sono/fisiologia , Punho/fisiopatologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Inquéritos e Questionários , Adulto Jovem
12.
Muscle Nerve ; 59(3): 321-325, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30549061

RESUMO

INTRODUCTION: To date, no method has been described or utilized to study the distribution of symptoms in carpal tunnel syndrome. We describe a technique of symptom-mapping that yields a population-based "anatomic profile" of carpal tunnel syndrome. METHODS: Symptoms were mapped on visual questionnaires depicting the volar hand, wrist, and forearm. Thirty-four hands in 26 patients with isolated carpal tunnel syndrome were included in the study. RESULTS: Painful symptoms were clearly centered over the carpal tunnel and were reported much less frequently in the digits. Nonpainful sensory disturbances (e.g., numbness, paresthesias) were found to have a much more peripheral and lateral distribution. DISCUSSION: Our technique serves to establish a population-based "anatomic profile" of carpal tunnel syndrome, assisting with clinical diagnosis and serving as a reference point for the comparison of pretreatment and posttreatment clinical data. Muscle Nerve 59:321-325, 2019.


Assuntos
Síndrome do Túnel Carpal/fisiopatologia , Adulto , Idoso , Eletromiografia , Feminino , Antebraço/fisiopatologia , Mãos/fisiopatologia , Humanos , Hipestesia/etiologia , Hipestesia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Dor/fisiopatologia , Parestesia/etiologia , Parestesia/fisiopatologia , Medidas de Resultados Relatados pelo Paciente , População , Estudos Retrospectivos , Inquéritos e Questionários , Punho/fisiopatologia
13.
Cureus ; 10(9): e3350, 2018 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-30510862

RESUMO

Peroneal neuropathy is the most common mononeuropathy encountered in the lower extremities. Isolated injuries to the dorsal cutaneous peroneal nerve (DCPN) are uncommon, and most of the reported cases are due to trauma or iatrogenic causes. We report a case of a middle-aged woman who presented with a nine-month history of tingling sensation over the dorsum of her left foot with normal electromyography (EMG) findings and was subsequently diagnosed with entrapment of the DCPN at the ankle by ultrasonographic examination.

14.
Br J Pain ; 12(4): 217-219, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30349695

RESUMO

INTRODUCTION: High-frequency (HF) spinal cord stimulation (SCS), a relatively new form of spinal cord stimulation, provides stimulation frequencies of up to 10 kHz and allows for paresthesia-free pain relief, an advantage that distinguishes it from traditional stimulation therapy. Without paresthesias, patients with HF SCS do not experience position-dependent painful stimulation and do not have to experience treatment interruption during sleep. Lead migration is a well-known complication of conventional spinal cord stimulation and usually results in a loss of efficacy along with other unpleasant sensory symptoms. In this case report, we present an incidence of lead migration in HF SCS that resulted in paresthesias, a symptom not expected to occur in this novel therapy. CASE: The patient, a 60-year-old female with post-laminectomy syndrome, underwent a trial of HF SCS with standard lead placement at T8-T9. She initially had pain relief, but returned to the office on post-operative day 2 complaining of left chest wall and cardiac paresthesias, without frank pain or palpitations, in addition to loss of efficacy for her back and leg pain. Imaging showed that the leads had migrated, with one lead reaching the levels of T1-T3. CONCLUSION: While HF SCS has emerged as an effective paresthesia-free means of reducing back and leg pain, we provide the first report of paresthesias occurring with the HF SCS system as a result of cephalad lead migration. As HF SCS is only now being utilized as a treatment modality, we must remain cautious of potential adverse outcomes in patients, in particular above T8.

15.
Muscle Nerve ; 58(3): 402-406, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29781124

RESUMO

INTRODUCTION: The sonographic changes of the median nerve after steroid injection for carpal tunnel syndrome (CTS) still require investigation. METHODS: Sixty-two patients with CTS were included. The Boston Carpal Tunnel Questionnaire was administered, and ultrasonographic examinations were performed before and at 2, 6, and 12 weeks after steroid injection. At 12 weeks, general improvement was scored on a 6-point Likert scale. RESULTS: After treatment, the cross-sectional area (CSA) of the median nerve was significantly reduced at 2-, 6-, and 12-week follow-ups (for each, P < 0.001, analysis of variance). The "significant improvement" group (n = 39) had a significantly greater reduction in the CSA at the carpal tunnel inlet (P = 0.014) and CSA in the proximal carpal tunnel (P = 0.003) compared with the "little/no improvement" group (n = 23). DISCUSSION: Sonographic measurement of CSA may be considered complementary to the standard clinical evaluation in monitoring of treatment response in patients with CTS. Muscle Nerve 58: 402-406, 2018.


Assuntos
Síndrome do Túnel Carpal/diagnóstico por imagem , Síndrome do Túnel Carpal/tratamento farmacológico , Nervo Mediano/efeitos dos fármacos , Nervo Mediano/diagnóstico por imagem , Esteroides/administração & dosagem , Ultrassonografia de Intervenção/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Condução Nervosa/efeitos dos fármacos , Condução Nervosa/fisiologia
16.
J Emerg Med ; 51(4): 450-453, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27553922

RESUMO

BACKGROUND: First described by Morgagni in 1761, aortic dissection (AD) is an acute life-threatening and time-sensitive disease process with an increasing mortality approaching 1% for every 1-hour delay in diagnosis within the first 48 hours. Despite continued surgical advancement, overall in-hospital mortality remains significant (27.4%). CASE REPORT: A 56-year-old woman presented to an outlying emergency department with a complaint of isolated lumbar pain associated with right lower extremity paresthesia and paralysis that progressed to the left. Her medical history and a review of symptoms were significant for chronic obstructive pulmonary disease and tobacco abuse. The initial evaluation in the emergency department included laboratory values and a computed tomography scan of the lumbar spine that revealed minimal disease. After transfer to our tertiary care center for an emergent magnetic resonance imaging scan of the lumbar spine, her vital signs were as follows: blood pressure, 176/84 mm Hg; heart rate, 76 beats/min; respiratory rate, 24 breaths/min; afebrile; and oxygen saturation 98% on room air. A repeat examination revealed cold extremities with mottling, bilateral symmetric lower extremity flaccid paralysis, and a loss of pulses and reflexes. She was insensate below the T10 dermatome. Her upper extremities and cranial nerves were normal. She underwent computed tomography angiography, revealing an extensive Stanford type A AD with interim thrombus formation. After successful endograft stenting, she died 24 hours later. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Comprising <2% of all ADs, the pathophysiology of paraplegia as the initial presentation of AD is caused by compression of the anterior spinal artery, resulting in ischemia of the spinal cord. Acute AD is a life-threatening medical emergency that requires a high clinical level of suspicion because of its often variable presentation and high incidence of mortality.


Assuntos
Aneurisma Aórtico/diagnóstico por imagem , Dissecção Aórtica/diagnóstico por imagem , Doença Aguda , Dissecção Aórtica/complicações , Dissecção Aórtica/cirurgia , Aneurisma Aórtico/complicações , Aneurisma Aórtico/cirurgia , Angiografia por Tomografia Computadorizada , Evolução Fatal , Feminino , Humanos , Dor Lombar/etiologia , Pessoa de Meia-Idade , Paraplegia/etiologia , Parestesia/etiologia
17.
Muscle Nerve ; 53(5): 818-22, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26790030

RESUMO

INTRODUCTION: Bifacial weakness with paresthesias is a rare subtype of Guillain-Barré syndrome (GBS), characterized by facial diplegia in the absence of any other cranial neuropathies, limb weakness, or ataxia. Frequently, patients also complain of distal limb paresthesias before or at the time they develop facial weakness. METHODS: We describe a man who developed post-infective isolated symmetric facial diplegia associated with distal paresthesias. Nerve conduction studies were conducted at 4 time-points over 6 months. RESULTS: A monophasic disease course and presence of cerebrospinal fluid albuminocytological dissociation supported a diagnosis of bifacial weakness with paresthesias. Serial nerve conduction studies demonstrated an evolving demyelinating neuropathy with evidence of distal and proximal demyelination without conduction block, which partially resolved over time. Despite complete resolution of facial weakness within weeks, distal paresthesias persisted beyond 6 months. CONCLUSIONS: This study suggests that neuropathy in patients with bifacial weakness and paresthesias is demyelinating and diffuse.


Assuntos
Doenças Desmielinizantes/diagnóstico , Paralisia Facial/diagnóstico , Condução Nervosa , Parestesia/diagnóstico , Adolescente , Humanos , Influenza Humana , Masculino
18.
Foot Ankle Surg ; 20(3): e37-9, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25103714

RESUMO

Tarsal tunnel syndrome (TTS) is a rare entrapment neuropathy of the tibial nerve within the fibro-osseous tarsal tunnel for which multiple etiologies, including trauma, congenital foot abnormalities and space occupying lesions, have been described. We present an unusual case of TTS caused by an accessory Flexor Hallucis Longus (FHL) tendon. Surgical excision led to a complete resolution of symptoms and improved the quality of life of our patient.


Assuntos
Músculo Esquelético/anormalidades , Síndrome do Túnel do Tarso/diagnóstico , Síndrome do Túnel do Tarso/etiologia , Tendões/anormalidades , Adulto , Humanos , Masculino , Síndrome do Túnel do Tarso/cirurgia
19.
Pediatr Neurol ; 51(1): 100-3, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24938142

RESUMO

INTRODUCTION: We present a developmentally appropriate adolescent boy who presented with upper and lower extremity glove-and-stocking paresthesias, distal weakness, vertigo, high-pitched voice, inattention, ataxia, and binocular diplopia after a voluntary 59-kg weight loss over 5 months. CLINICAL INVESTIGATIONS: Extensive investigations revealed serum thiamine levels <2 nmol/L. Brain magnetic resonance imaging revealed symmetric abnormal T2 prolongation of the mammillary bodies. Nerve conduction studies were consistent with axonal, length-dependent polyneuropathy. Together, these findings were diagnostic for peripheral polyneuropathy and Wernicke encephalopathy secondary to thiamine deficiency. CONCLUSION: This patient illustrates that eating disorders can be an uncommon cause of rapidly progressive paresthesias, weakness, and neurological decline due to thiamine deficiency.


Assuntos
Anorexia Nervosa/complicações , Doenças do Sistema Nervoso Periférico/etiologia , Deficiência de Tiamina/complicações , Encefalopatia de Wernicke/etiologia , Adolescente , Extremidades/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Corpos Mamilares/patologia , Tiamina/sangue
20.
Am J Med Genet A ; 164A(7): 1635-41, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24677493

RESUMO

Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) gene, encoding a Ca++-permeable, non-selective cation channel. The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long-term natural course remain inadequately characterized. The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals. The mutation has previously been detected in another family with autosomal dominant brachyolmia [Rock et al., 2008]. Review of hospital records and patient assessments indicated that clinical symptoms of brachyolmia became evident by school age with chronic pain in the spine and hips; radiographic changes were evident earlier. Growth was not affected during early childhood but deteriorated with age in some patients due to increasing spinal involvement. Affected individuals had a wide range of subjective symptoms with chronic pain in the extremities and the spine, and paresthesias. Our findings indicate that autosomal dominant brachyolmia may be associated with significant long-term morbidity, as seen in this family.


Assuntos
Estudos de Associação Genética , Mutação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Fenótipo , Canais de Cátion TRPV/genética , Adulto , Pré-Escolar , Feminino , Genótipo , Humanos , Masculino , Linhagem , Radiografia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...