Knee dislocation in a patient with congenital pain insensitivity—a case report

This case report describes a patient who suffered a knee dislocation with a vascular injury following a high-velocity injury. In addition he suffered with congenital pain insensitivity. As a result there was a delay in diagnosing his major injury. In addition he underwent conservative therapy despite multidirectional knee instability. After a prolonged course of non-operative treatment, he underwent reconstruction of anterior and posterior cruciate ligaments. Following operative treatment, knee stability was dramatically improved. The case report highlights the difficulties in diagnosing patients with major injuries who suffer with pain insensitivity and shows that operative treatment for the multidirectional knee instability gives a more favourable outcome than non-operative treatment.

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先天性无痛无汗症患儿七氟醚吸入麻醉1例

先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)是一种以痛觉丧失、无汗、反复发热、自残、发育迟缓、不同程度的智力低下为主要临床表现的周围神经病,这是一种因编码酪氨酸激酶受体A(tyrosine kinase receptor A,TrkA)蛋白的神经营养因子酪氨酸激酶受体1型(neurotrophic tyrosine kinase receptor type 1,NTRK1)基因失活突变造成的常染色体隐性遗传病。文章报道1例痛觉丧失、无汗、智力低下,外伤后胫骨骨折的先天性无痛无汗症6岁男孩,该患儿仅用七氟醚吸入麻醉即得到了满意的麻醉效果,血流动力学未发生显著波动。     

Anaesthetic management of children with congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare sensory neuropathy, which affects patients' pain sensation and thermoregulation. There are several issues to consider when planning anaesthesia for those with this congenital disorder. Over a 20-year period, six patients with CIPA underwent 20 surgical procedures under general anaesthesia in our institution. We analysed our experience with these patients retrospectively. We conclude that patients with CIPA are able to undergo surgical procedures under general anaesthesia without major problems.     

Use of BIS monitor in a child with congenital insensitivity to pain with anhidrosis

We describe a case of a 14-year-old boy with congenital insensitivity to pain and anhidrosis (CIPA) who underwent tarsal tunnel release for tarsal tunnel syndrome. Because of abnormal pain perception, the patient's response to normally painful surgical stimuli is severely impaired and not adequately reflected in a corresponding rise in blood pressure or heart rate. This lack of autonomic feedback to pain stimuli may make it more difficult to assess whether anesthetic depth is adequate to prevent intraoperative awareness and thus to safely conduct anesthesia, especially if muscle paralysis is required for surgical indications. We describe for the first time the use of processed EEG monitoring with a BIS A-2000 monitor to gauge anesthetic depth in a patient with CIPA. Initial forehead bispectral index (BIS) values prior to induction were normal (98) and then ranged between 23 and 79 during the whole surgical procedure. Propofol and lidocaine were used for induction and deep extubation; isoflurane was used as the sole anesthetic for maintenance with concentrations ranging from 0.21% to 0.92% to maintain a target BIS of 40-60. Volatile anesthetic requirements remained low throughout the procedure and no narcotics were necessary during surgery. The BIS monitor served as an adequate tool to help avoid excessive use of volatile anesthetic while assuring a processed EEG consistent with unconsciousness and amnesia. After the patient had recovered and was oriented to place and time in the recovery room, he was asked whether he remembered anything about the surgery and the presence of a breathing tube in his mouth. He denied any recall of such events.     

The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis

BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA, or hereditary sensory and autonomic neuropathy type IV) is a rare, autosomal recessive disease, related to a mutation in the TrkA gene, characterized by inability to sweat, insensitivity to pain and recurrent episodes of hyperpyrexia. There are two Bedouin tribes in Israel with different mutations of the TrkA gene: one in the southern region and the other in the northern region. The Soroka University Medical Center is the referral centre for the entire southern region of Israel. One in 4500 anaesthesia cases involves a patient with CIPA. METHODS: We reviewed 40 anaesthesia records of 20 patients with CIPA for anaesthetic technique and incidence of side-effects. RESULTS: Sixteen patients developed complications in the immediate perioperative period: mild hypothermia in one patient and cardiovascular events in 15 others with one case of cardiac arrest. These complications were unrelated to the anaesthetic drug administered. There were no events of hyperthermia or postoperative nausea. CONCLUSIONS: Cardiovascular complications following anaesthesia are common in patients with the southern Israel variant of CIPA. Hyperthermia, previously recognized as a major concern in patients with congenital insensitivity to pain with anhydrous, was not seen in our patients. We conclude that cardiovascular involvement is frequently encountered in CIPA patients following anaesthesia and is the major concern in their anaesthetic management.     

Congenital insensitivity to pain and anhidrosis

Congenital insensitivity to pain and anhidrosis (CIPA) is a rare reported entity characterised by disturbance in the pain and temperature perception due to involvement of the autonomic and sensory nervous system. It is an autosomal recessive trait with several defects of the gene NTRK1 coding for the neurotrophic tyrosine kinase — a nerve growth factor receptor on chromosome 1q21-q22. Traumatic fractures are common and, because of lack of pain, may go unrecognised for prolonged periods, resulting in nonunion or pseudoarthrosis. A Charcot joint may be the end result. Treatment complications are very common in these patients and range from infection to wound breakdown to failure of fixation. We report here a rare case of CIPA in a 9-year-old girl and her younger male sibling with generalised absence of pain, anhidrosis and its orthopaedic implications.     

Neuropathic spinal arthropathy in congenital insensitivity to pain

Neuropathic arthropathy developed in the lumbar spine of a 28-year-old woman with congenital insensitivity to pain. Progressive spinal instability and destruction occurred at the L1-L2 interspace, with resultant kyphosis. Successful arthrodesis was obtained with staged posterior and anterior procedures.     

Retardation of pain development: a case of recovery from congenital insensitivity to pain

Congenital analgesia is a rare genetic disorder. We report here that a 12-year-old boy was able to recover from congenital insensitivity to pain. Neurological examinations revealed that there was a 'stocking' distribution of pain decrement on the lower extremities under the patient's knee joints. Magnetic Resonance Imaging (MRI) of his brain showed gyrus thinning with sulcus widening at both sides of the parietal lobe. Southern blot hybridization probed with cDNAs of various opioid receptors did not detect any significant abnormality. Our results suggest that this rare case may not be genetically determined.     

Charcot spinal arthropathy in patients with congenital insensitivity to pain: a report of two cases and review of the literature

Charcot spine, or neuropathic spinal arthropathy, involves the progressive destruction of the spinal joint due to the lack of normal protective sensations and proprioception. A rare cause of Charcot spine is congenital insensitivity to pain, which is an absent or abnormal response to painful stimuli. There are few case reports describing this condition, and long-term follow-up data are limited. The presentation and treatment of two patients with Charcot spine secondary to congenital insensitivity to pain are described. Both cases were characterized by lumbar involvement and were treated with circumferential decompression and an extended lumbo-pelvic fusion construct. The cases described here demonstrate stable neurological status at 1.5 and 5 years follow-up. Patient characteristics, pre- and post-operative imaging, operative approach, and outcomes are described. The literature regarding this rare condition is also reviewed, with an emphasis on operative management and outcomes. Surgical management is traditionally complicated by a high rate of hardware failure and adjacent segment degeneration. The current review highlights the importance of prompt and aggressive management following diagnosis of Charcot spine, as well as extended follow-up.     

Cervical myelopathy in patients with congenital cervical block vertebrae

Summary Thirty-two patients with congenital cervical block vertebrae are reviewed. Twenty-nine patients had single level fusion, one had two-level fusion, and the remaining two had multilevel fusion. Eighteen patients had cervical myelopathy; five of these had related trauma and 13 had no history of trauma. The five patients who had cervical myelopathy following trauma underwent magnetic resonance imaging (MRI); three of them had abnormalities in the spinal cord at the segment adjacent to fusion. In all five patients the symptoms and signs were attributed to the segment adjacent to fusion. Myelography, computed tomographic myelography and MRI were performed in 11 of the 13 patients with cervical myelopathy without trauma. In 9 of them maximum compression of the spinal cord was not seen at the segment adjacent to fusion. The major factor contributing to cervical myelopathy was associated spinal canal stenosis. Seven patients with cervical myelopathy without history of trauma were treated surgically, six of whom had spinal canal stenosis treated by enlargement of the spinal canal: subtotal corpectomy and arthrodesis was performed in three, and open-door expansive laminoplasty in three. Anterior interbody arthrodesis was performed in one patient without spinal canal stenosis. All recovered from the myelopathy postoperatively. When a trauma occurs, it concentrates stress at the segment adjacent to fusion, resulting in possible spinal cord injury. On the other hand, when there is no trauma, spinal canal stenosis is the principal factor contributing to cervical myelopathy.     

A Surgeon's guide to advances in the pharmacological management of acute Charcot neuroarthropathy

Acute Charcot neuroarthropathy is a devastating condition and, its incidence is increasing. Currently, treatment consists of immobilisation and off-loading of the involved extremity. Outcomes are frequently poor and novel treatments are being sought urgently. This review aims to outline advances in the pharmacological treatment of this, condition.PubMed and the Cochrane Database of systematic reviews were searched. Relevant papers were cross referenced.Eleven original studies were identified. The limited data available suggest pamidronate, alendronate and calcitonin provide some clinical and biochemical improvements while zoledronic acid is deleterious and, increases off-loading times. However, the data is not robust enough to convincingly demonstrate clinically meaningful effects. The studies were predominantly low quality and heterogeneous. They differed markedly in study type, pharmacological agent used, dosing regimen, disease, aetiology/stage/location, concurrent off-loading regimen, outcomes and, follow-up. Few were rigorous in controlling for associated confounding variables and none investigated long term outcomes.The routine use of pharmacological treatment modalities for this condition is not recommended in the United States by the Food and Drug Administration or in the United Kingdom by the National Institute for Health and Clinical Excellence. Given the evidence available this is justified and further higher quality research is required.     

Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome

INTRODUCTION

Right iliac fossa (RIF) pain is one of the most common presenting complaints faced by general surgeons in the emergency department. Correct diagnosis and appropriate surgical intervention can often pose a challenge.

PRESENTATION OF CASE

A 12-year-old girl presented to the emergency department with a four day history of initially central acute abdominal pain, now localised in the RIF. During laparoscopy, the following findings were made: macroscopically dilated appendix, right and left gonads at the internal opening of the inguinal canal, empty pelvis with a rudimentary uterus on the right side. No evidence of fallopian tubes or connection of uterus to the vagina and broad based, non-inflamed Meckel''s diverticulum. An incidental diagnosis of complete androgen insensitivity syndrome was made.

DISCUSSION

Androgen insensitivity syndrome (AIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens.

CONCLUSION

This case report highlights the advantage of laparoscopy as a diagnostic and treatment tool in a twelve year old girl with multiple intra-abdominal findings. While the ultimate diagnosis responsible for her symptom of RIF pain was acute appendicitis, the additional diagnosis of CAIS and incidental Meckel''s would have otherwise likely gone undetected.     

Necrotising fasciitis in an infant with congenital insensitivity to pain syndrome.

We present a rare case of necrotising fasciitis in an infant with congenital insensitivity to pain syndrome. The aetiology, diagnosis and management of necrotising fasciitis in children are compared with those in adults. In contrast to adults, children affected by necrotising fasciitis are usually previously healthy and have no predisposing factors. Early diagnosis, intravenous antibiotics and aggressive surgical debridement are mandatory for an optimal outcome.     

From the Destruction of Two Lumbar Segments to Thoracic-Lumbar-Pelvic Fusion: A Case Caused by Congenital Insensitivity to Pain with Anhidrosis and Literature Review

Background

Congenital insensitivity to pain with anhidrosis (CIPA) with Charcot arthropathy is a rare combination in orthopaedic clinical practice. The experience dealing with such patients is limited. Here with this case of approximately 10 years follow-up, we wish to shed light on the choices of strategies of surgeries and alerting clinicians with post-surgery complications. The possible underlying reasons for the recurrent Charcot arthropathies as well as strategies for peri-operative management for such surgical cases are also discussed.

Case Presentation

The patient underwent a surgery to correct her severe kyphosis caused by CIPA-related Charcot spine. Multiple post-surgery complications occurred during her follow-up, including hardware migration, adjacent segment disease (ASD), and loosening pedicle screws. Five revision surgeries were conducted consequently. From the limited experience on the management of CIPA-related Charcot spine, surgical correction is still the first-line treatment.

Conclusions

Of all the 16 cases reviewed (including our case), loosening pedicle screws, hardware migration, and ASDs are the common post-surgery complications. Large-scale removal of damaged vertebrae and subsequent reconstruction are not recommended, which might increase the risk of hardware migration. A 360° long-segment fusion might be of help to reduce the risk of ASDs. In the meantime, comprehensive management including careful nursing, proper rehabilitation exercises, and treatments targeting bone mineral metabolism is also critical.     

A rare case of congenital bronchoesophageal fistula in an adult

IntroductionWhen congenital bronchoesophageal fistulas exist without atresia of the esophagus, the diagnosis can be delayed, although symptoms may occur early following fistula development. Therefore, while they are usually found in infants, they can be extremely rarely found in adults. We herein report a rare case of bronchoesophageal fistula without atresia in an adult.CaseAn 69-year-old male presented to the outpatient clinic with a decades-long history of cough with expectoration immediately after taking food, especially liquids.Computed tomograph, esophagoscopy, and esophagography revealed the fistulous communication between the mid-esophagus and right lower lobe bronchus, with consolidation in the right lower lobe. We performed right lower lobectomy with the closure and excision of the fistula. The histopathology of the fistula revealed the mucosa to be lined by stratified squamous epithelium. There was no evidence of inflammation, granuloma, or carcinoma.ConclusionIn conclusion, despite the benign nature of this malformation, if left untreated, it can cause long-term debilitating respiratory symptoms associated with the fistula. Therefore, the diagnosis should be considered in the evaluation of recurrent lung infection.     

Functional pedal construct achieved by combined operative treatment in peritalar complex Charcot arthropathy: A prospective study of 38 feet

Background

Charcot arthropathy of the peritalar complex carries a high risk of amputation if not properly managed. Our aim is to assess the functional outcome of severe Charcot arthropathy of the peritalar complex following enblock resection of the ulcer, massive debridement and stabilizing all the elements of the peritalar complex.

Establishment of parameters for congenital stenosis of the cervical spine: an anatomic descriptive analysis of 1066 cadaveric specimens

Purpose

Congenital cervical stenosis (CCS) occurs when the bony anatomy of the cervical canal is smaller than expected in the general population predisposing an individual to symptomatic neural compression. No studies have defined CCS based on the normal population. The diagnosis is currently made based on clinical impression from radiographic studies. The aim of this study is to establish parameters that are associated with CCS, based on anatomic measurements on a large sample of skeletal specimens.

Methods

From the Hamann-Todd collection at the Cleveland Museum of Natural History, 1,066 skeletal specimens were selected. Digital calipers were used to measure the sagittal canal diameter (SCD), interpedicular distance (IPD), and pedicle length. Canal area at each level was calculated using a geometric formula. A standard distribution was created and values that were 2 SD below mean were considered as congenitally stenotic. An analysis of deviance was performed to identify parameters that were associated with CCS. Regression analysis was used to determine odds ratios (OR) for CCS using these parameters.

Results

CCS was defined at each level as: C3/4 = 1.82 cm², C4/5 = 1.80 cm², C5/6 = 1.84 cm², C6/7 = 1.89 cm², C7/T1 = 1.88 cm². Values of SCD < 13 mm and IPD < 22.5 mm were associated with CCS and yielded sensitivities and specificities of 88–100 % at each level. Logistic regression demonstrated a significant association between these parameters and presence of CCS with OR > 18 at each level.

Conclusions

Based on our study of a large population of adult skeletal specimens, we have defined CCS at each level. Values of SCD < 13 mm and IPD < 23 mm are strongly associated with the presence of CCS at all levels.