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On-line version ISSN 1806-907X
Rev. Bras. Anestesiol. vol.55 no.6 Campinas Nov./Dec. 2005
Spinal block for urgency orthopedic surgery in Von Recklinghausen's disease patient. Case report*
Raquianestesia para cirugía ortopédica de urgencia en una paciente portadora de enfermedad de Von Recklinghausen. Relato de caso
Fabiano Timbó Barbosa, TSA, M.D.I; Alexandre Vieira Figueiredo, TSA, M.D.II; Rafael Martins da Cunha, M.D.III; Marcos Antônio Costa de Albuquerque, TSA, M.D.IV
em Docência para o Ensino Superior conferido pelo Centro de Ensino Superior
de Maceió, anestesiologista da Unidade de Emergência Dr. Armando Lages
em Maceió; Intensivista da Clínica Santa Juliana em Maceió e
da Santa Casa de Misericórdia de São Miguel dos Campos em Alagoas
IIEspecialista em Terapia Antálgica, Membro da Câmara Técnica de Anestesiologia do CREMEB, Anestesiologista da Clínica São Marcos e do Hospital Ana Néri, Salvador, BA
IIIProfessor de farmacologia do Centro de Ensino Superior de Maceió, Professor Convidado de Farmacologia da Escola de Ciências Médicas de Alagoas, Anestesiologista do Hospital Unimed - Maceió, AL
IVDiretor Científico da SAESE, Membro do Comitê de Anestesia Venosa da SBA, Diretor Geral do Hospital Governador João Alves Filho, Anestesiologista da Universidade Federal de Sergipe, Anestesiologista do Hospital São Lucas e Diagnose
OBJECTIVES: Von Recklinghausen's disease is a neurogenetic disease due to
chromosome 17 abnormality. This report aimed at describing the anesthetic approach
for Von Recklinghausen's disease patient submitted to urgency orthopedic surgery.
CASE REPORT: Female patient, 28 years old, with Von Recklinghausen's disease, submitted to emergency orthopedic surgery under spinal block. There have been no complications both in the intraoperative period and in the post-anesthetic care unit. Patient was discharged 4 days later.
CONCLUSIONS: Spinal block was possible in this case with no need for airway handling.
Key words: ANESTHETIC TECHNIQUES, Regional: spinal block; DISEASES: Von Recklinghausen's
Y OBJETIVOS: La enfermedad de Von Recklinghausen es una enfermedad neurogenética
causada por una anomalía en el cromosoma 17. Este relato tiene por objetivo
describir la conducta anestésica en una paciente con enfermedad de Von
Recklinghausen sometida a cirugía ortopédica de urgencia.
RELATO DEL CASO: Paciente del sexo femenino, 28 años, portadora de la enfermedad de Von Recklinghausen, sometida a cirugía ortopédica en un hospital de emergencia con raquianestesia. No presentó complicaciones en el período intra-operatorio, tampoco en la sala de recuperación pos-anestésica. Tuvo alta hospitalar en el 4º día de pos-operatorio.
CONCLUSIONES: En el caso relatado fue posible la realización de la raquianestesia sin haber necesidad de manejar de la vía aérea.
Neurofibromatosis is related to at least two dominant autosomal genetic diseases with café au lait spots on the skin and one or more neurofibromas 1. It is classically divided in types I and II.
Type I neurofibromatosis (NF1) is also called Von Recklinghausen disease and is the most common presentation 1. It is often associated to different clinical conditions needing surgical treatment, such as 1: painful neurofibroma, severe scoliosis, congenital pseudo-arthritis, hydrocephalus, intracranial and medullary tumors. Neurofibromas may suffer secondary malignant degeneration and become sarcomas 2.
Type II neurofibromatosis is caused by a change in chromosome 22 and is often followed by bilateral vestibular shwannoma 2. Café au lait spots and peripheral neurofibromas are uncommon and auditory impairment is in general symptomatic in the third decade of life 2.
This report aimed at presenting a patient with this disease and the anesthetic approach adopted.
Female patient, 28 years old, 57 kg, with Von Recklinghausen disease, referred to an emergency hospital with exposed tibial fracture. During preoperative evaluation she denied any sign or symptom that could be related to central nervous system impairment by the presence of neurofibromas. Evaluation was normal and patient presented relaxed, eupneic, hydrated, normal color of mucosa, blood pressure of 120 x 60 mmHg and heart rate of 80 bpm. Remaining physical evaluation was normal with no signs of neoplasias.
Dysphonia was evidenced during preoperative evaluation, which appeared some years before the surgical procedure. Additional tests - blood count, glycemia, platelet count and chest X-Rays - were normal. Patient denied history of systemic hypertension.
Monitoring in the operating room consisted of pulse oximetry, cardioscope and noninvasive blood pressure. Intravenous puncture was achieved with 18G catheter and lactated Ringer's infusion was initiated.
Spinal block was performance with patient in the sitting position and manual traction of the fractured leg. Median lumbar puncture was performed between the third and fourth vertebrae, with 27G Whitacre needle and 03 mL of 0.5% hyperbaric bupivacaine were injected. Anesthesia went on without intercurrences. Patient was maintained in the supine position with oxygen through nasal catheter with a flow 5 L.min-1 of.
Sensory block was sequentially tested with needle and when dermatome T12 was reached, surgery was started. Intraoperative hypotension was treated with a total of 5 mg intravenous ethylphenylephrine in 1 mg intermittent bolus. Bolus of 250 mL lactated Ringer's were also associated to the vasopressor. Total crystalloids during procedure was 3000 mL. Surgery lasted 150 minutes and patient was referred to post-anesthetic recovery unit where she remained for 12 hours without intercurrences, being discharged 4 days later.
Von Recklinghausen's disease is a genetic disorder transmitted by dominant autosomal heritage with variable penetration 2. It originates from the proliferation of Schwann cells and fibroblasts 3.
Disease is progressive 4, worsens with pregnancy 4,5 and during puberty 5, and is more frequent among males 6.
NF1 has an approximate incidence of 1 out of every 3000 births 7-9, being one of the most common neurogenetic disorders 8.
Molecular pathogenesis of the disease may be explained by the absence of the synthesis of a protein called neurofibromine 2,8,10, which is composed of 2818 aminoacids 8. Molecular analysis of neurofibromine has revealed similarity between part of it and the catalyst domain of a protein which acts as negative regulator of Ras guanosine triphosphate GTPase 8. In many cells, Ras GTP helps oncogenetic transformation both in vivo and in vitro 8. The loss of NF1 genetic expression leads to the absence of neurofibromine and to increased Ras GTP activity with consequent increase in cellular proliferation and formation of tumors 8. A chromosome 17 mutation is responsible for NF1 2,10.
The disease may be clinically characterized by 5 café au lait spots, skin, neural or vascular neurofibromas, intracranial and medullary tumors, skeletal changes, lung stenosis, low stature, endocrine abnormalities and learning difficulties. Some associated diseases should also be mentioned, such as pheocrhomocytoma 9,11,12, thyroid carcinoma 7,11, polycystic kidney 7, aorta aneurysm 7 and renal artery stenosis 9,13.
Diagnosis is confirmed by the presence of at least six café au lait spots larger than 1.5 cm in diameter. Skin or subcutaneous neurofibromas in childhood also confirm the diagnosis 13.
The presence of pharyngeal 12, laryngeal 12 and mediastinum 5 neurofibromas, and macroglossia 10 may lead to airway obstruction, which is clinically manifested by dyspnea, dysphagia or dysphonia 12.
Skeletal changes are seen in 50% of cases and include 11 scoliosis, mandibular deformity, congenital pseudo-arthrosis and cervical abnormalities.
Scoliosis is present in 2% of patients 9, impairing respiratory mechanics, gaseous changes and pulmonary circulation 14. Abnormal ribcage development directly affects the elastic properties of respiratory system 14. There is change in pulmonary ventilation and perfusion ratio with the development of generalized hypoventilation 14. Pulmonary artery hypertension, respiratory failure and cor pulmonale may appear with age 14.
Cervical involvement is due to tumor infiltration or to abnormalities in spinal ligaments with possibility of atlanto-occipital luxation 15.
The presence of giant plexiform neurofibroma in the head may lead to eyelid ptosis, facial gigantism and visual problems 15. Macroglossia may also be present 10. Facial deformities require surgical treatment 15.
Pheochromocytoma is present in approximately 1% 9,12,13 of patients and is the major cause for systemic hypertension (SH) in adults 6. Its manifestation in children is uncommon 5,9 and in this group of patients, SH is more commonly manifested by renal artery stenosis 13.
Some preoperative tests are recommended to prevent complications and help choosing the best anesthetic technique in a case-by-case basis.
CT scan, MRI and indirect laryngoscopy are indicated to evaluate airways involvement 12. Preoperative tracheostomy should be considered to assure safe general anesthesia.
In patients with scoliosis and lung disease, chest X-Rays, blood gases analysis and spirometry are indicated 12.
For all patients, urinary catecholamine levels should be determined due to their association with pheochromocytoma12. Normal values for 24-hour urine are below 0.1 mg free epinephrine and norepinephrine, 1.3 mg total metanephrine 10 mg vanillylmandelic acid and 15 mg homovanillic acid. Comma, dehydration or excessive stress increase the secretion of such components 16.
Hypophysis function evaluation is recommended in patients with low stature or referring sexual dysfunction.
General anesthesia may be successful in Von Recklinghausen patients when the possibility of airway obstruction is thoroughly investigated and when sensitivity to neuromuscular blockers is valued.
Difficult intubation may be caused by airways obstruction by the presence of neurofibroma, especially in the larynx and pharynx. Patients with history of complication-free intubation are not free from risks since the disease is progressive 7. There is a report on impossibility of ventilation under mask with tracheostomy after anesthetic induction 10.
NF1 patients have increased sensitivity to nondepolarizing neuromuscular blockers 4,5,8-10,12,13. A defect on pre-synaptic receptor and/or a change in post-synaptic receptor response may explain this abnormal response 4. Neuromuscular function monitoring is recommended when general anesthesia is planned with this class of drugs 9,10,12.
Literature is controversial with regard to succinylcholine. Some authors refer decreased sensitivity 4, others normal 6,11 and still others increased sensitivity 5,7,9,10,13.
It has been reported that neuraxial block may be successfully performed 4,5,7,12,13,17. In our case, due to the urgency of the situation, it was impossible to perform more complete preoperative tests and spinal anesthesia was chosen to spare patient from tracheal intubation risks. There might be technical difficulties due to marked spinal shift 13 or to the presence of asymptomatic neurofibroma in the needle pathway 7,13, which were not present in our patient.
Spinal anesthesia was possible in this case with no need for airway handling.
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Dr. Fabiano Timbó Barbosa
Address: Rua Comendador Palmeira, 113/202 Ed. Erich Fromm, Farol
ZIP: 57051-150 City: Maceió, AL
Submitted for publication
March 3, 2005
Accepted for publication June 28, 2005
* Received from Unidade de Emergência Dr. Armando Lages, Maceió, AL