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Anaesthesia and orphan disease

Bloom's syndrome

Eberhardt, Esther; Münster, Tino; Wurm, Jochen; Prottengeier, Johannes

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European Journal of Anaesthesiology: July 2016 - Volume 33 - Issue 7 - p 547-549
doi: 10.1097/EJA.0000000000000451
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Editor,

We report on the anaesthetic management of a patient with Bloom's syndrome, an extremely rare disorder with autosomal recessive inheritance. Bloom's syndrome is caused by mutations of the Bloom's gene (15q26.1) encoding RecQ helicase, which helps maintain the stability of DNA. Impaired DNA repair leads to chromosomal instability and to an increased prevalence of malignancies, among other problems. Written consent for this report was obtained prior to publication.

Bloom's syndrome leads to proportionate microsomia of prenatal onset. Its distinctive facial features include microcephaly and a small lower jaw, and a generally reduced amount of subcutaneous fat further characterise the general appearance. Those affected display hypersensitivity to DNA-damaging radiation and chemicals, and develop a photosensitive butterfly-shaped facial erythema.1,2

Major clinical complications are an increased risk of developing cancers at an unusually early age, predominantly of the skin, but also leukaemia, lymphomas and tumours of the colon and breast, that often limit average life expectancy to the third decade.3 Hypoimmunoglobulinopathies may lead to immunodeficiency and contribute to a predisposition for sinus and pulmonary infection with an increased risk of bronchiectasis and chronic obstructive pulmonary disease.4 Endocrinopathies are common, including thyroid dysfunction and diabetes mellitus type 2.5

The overall frequency of Bloom's syndrome is unknown and less than 300 cases have been recorded in the Bloom Syndrome Registry. The characteristic clinical features may alert the clinician and the diagnosis must be confirmed by cytogenetic analysis.4

Currently there is no known cure and therapy is merely symptomatic and supportive. Management includes preterm cancer screening and protection from ionising radiation including sun exposure. Hypogammaglobulinaemia may require immunoglobulin substitution.4

We report a 24-year-old woman with Bloom's syndrome who underwent re-septorhinoplasty under general anaesthesia. She complained of impaired nasal airflow and suffered from chronic maxillary sinusitis resulting in rhinorrhoea and recurrent cephalalgia.

At preoperative assessment she was microsomic with a height of 145 cm weighing 32 kg. The facial stigmata of proportional microcephaly and a small lower jaw were discernible. Physical examination revealed a Mallampati score of 3, impaired cervical extension and reduced subcutaneous soft tissue but no further abnormalities, with no hint of current infection or gastroesophageal reflux.

The past medical history included the diagnosis of breast cancer at the age of 22 that had been successfully treated by neoadjuvant chemotherapy, followed by mastectomy and removal of axillary lymph nodes. Anaesthesia for breast surgery had been performed at our centre without complication using total intravenous anaesthesia with propofol and remifentanil. Full direct laryngoscopy was followed by endotracheal intubation. Immunoglobulin deficiency had been diagnosed earlier and there had been several hospital admissions because of severe infections. She also reported a history of untreated asthma but cardiopulmonary performance was without any limitation to daily life. There had been adverse drug reactions to ciprofloxacin causing exanthema, and metamizol had induced general pruritus. There was no diabetes mellitus and the results of blood investigations were normal except for recurring mild hypokalaemia. Recent postchemotherapy evaluation of cardiac function by ECG and echocardiography revealed no pathological findings.

Considering the medical history, we decided to perform total intravenous anaesthesia once more. After establishing routine monitoring we attempted to secure venous access. Her skin disorders resulted in poor vein visibility and palpability that made the insertion of one peripheral 22 G cannula difficult. During pre-oxygenation, 0.1 mg fentanyl was given followed by remifentanil at 0.2 μg kg−1 min−1 for 3 min. She received lidocaine 30 mg to alleviate the injection pain of propofol, and anaesthesia was induced by propofol in target controlled infusion mode at a target concentration of 4 μg ml−1 (Marsh model, target level compartment: CNS). Ventilation via facemask was performed without difficulty prior to relaxation with rocuronium 0.6 mg kg−1. As in the previous procedure, she was intubated with a 6.5 Magill tube with complete visualisation of the glottis at direct laryngoscopy. However, her mouth was small and, for her age, there was remarkable stiffness of the cervical spine. Anaesthesia was maintained by propofol target compartment concentrations between 3 and 3.2 μg ml−1 and remifentanil (0.5 μg kg−1 min−1).

Pressure-controlled ventilation was adjusted to maintain normal end-tidal carbon dioxide levels and the inspired oxygen fraction was 0.5–0.6. Pulmonary compliance was rather poor, in the region of 20 ml mbar−1 in spite of sequential trials of positive end expired pressure. A venous sample was taken for blood–gas analysis that revealed mild hypokalaemia, which was treated by infusion of 10 mmol KCl, and 1 mg kg−1 dexketoprofen was given for postoperative analgesia. The surgical procedure and emergence from anaesthesia were uneventful.

During postoperative observation she developed clinical signs of bronchospasm with repeated episodes of oxygen desaturation to 91% at its lowest, that were treated with oxygen (4 l min−1) and nebulised salbutamol and ipratropium bromide. Following this there were no more respiratory problems and no evidence of pulmonary infection.

In the provision of anaesthesia for Bloom's syndrome, a difficult airway because of facial dysmorphia, small oral opening and vertebral stiffness should be anticipated.6 Skin and soft tissue abnormalities may complicate venous access and require thoughtful patient positioning and temperature management. In addition to immunodeficiency and chronic lung disease, diabetes mellitus and gastroesophageal reflux can cause perioperative complications.1 Although muscular function is mostly unaffected, myopathy, muscle weakness and immobilisation have been described.7 Previous reports do not provide any data on muscle-related complications such as rhabdomyolysis and hyperkalaemia, but the authors would advocate the avoidance of depolarising muscle relaxants. Intraoperative monitoring of all affected patients should ensure complete recovery from muscular relaxation.

Acknowledgements relating to this article

Assistance with the case report: EE and JP provided anaesthesia. JW performed the surgical procedure. All authors were involved in writing the report.

Financial support and sponsorship: none.

Conflicts of interest: none.

References

1. Bloom Syndrome Registry. http://weill.cornell.edu/bsr/. [Accessed 25 October 2015]
2. Baum VC, O’Flaherty JE. Bloom syndrome. Anesthesia for genetic, metabolic and dysmorphic syndromes of childhood. Philadelphia, USA: Lippincott Williams & Wilkins; 2007. 53.
3. Arora H, Chacon AH, Choudhary S, et al. Bloom syndrome. Int J Dermatol 2014; 53:798–802.
4. Gennery A. Bloom Syndrome UpToDate®. http://www.uptodate.com/contents/bloom-syndrome. [Accessed 26 October 2015]
5. Diaz A, Vogiatzi MG, Sanz MM, et al. Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome. Horm Res 2006; 66:111–117.
6. Aono J, Kataoka Y, Ueda W, et al. Anesthesia for a patient with Bloom's syndrome [in Japanese]. Masui 1992; 41:255–257.
7. Ahmad U, Fischer ER, Danowski TS, et al. Endocrine abnormalities and myopathy in Bloom's syndrome. J Med Genet 1977; 14:418–421.
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