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• W3000491824 abstract "Editor, Incontinentia pigmenti also known as Bloch Sulzberger Syndrome is an X-linked dominantly inherited syndrome manifesting at birth or early childhood and the estimated prevalence at birth is 0.7/100 000.1 The associated gene was identified by the International Incontinentia Pigmenti Consortium in 2000 as IKBKG gene (Inhibitor of Nuclear Factor Kappa-B Kinase Subunit Gamma), formerly known as NEMO which is isolated on the X chromosome at position q28.2 The case reported here is of a 6-year-old girl, weighing 22 kg and 110 cm tall, with incontinentia pigmenti who presented for MRI under anaesthesia. Informed consent for publication of this case report was obtained from the parents. The child was the firstborn of healthy nonconsanguineous parents, delivered by caesarean section in the 40th week of an uneventful gestation, with birthweight of 3200 g, length 50 cm and head circumference 35 cm. She had a haemangioma on her back and nasal root flatness. At the age of 2 months, vesicular lesions were noted on the lower extremities and inner surface of the upper extremities. Skin biopsy revealed vesicular lesions with keratinocytic necrosis, exocytosis of eosinophilic polynuclear cells and spongiosis, and was compatible with the diagnosis of incontinentia pigmenti. The medical history included an afebrile focal seizure 1 week previously while awake, which was characterised by loss of consciousness, asymmetric stiffening and cyanosis. Antiepileptic treatment of levetiracetam at the dose of 40 mg day−1 was commenced and no further seizures were experienced. Blood count and biochemistry analysis were within normal range. ECG showed normal sinus rhythm with no ST-T changes or QT prolongation. Transthoracic echocardiogram showed subaortic ventricular septal defect, secundum atrial septal defect and pulmonary stenosis. MRI under anaesthesia was required to determine if the patient had any abnormalities of the brain. Anaesthetic induction was performed with 8% sevoflurane and 5 l min−1 oxygen via facemask in the MRI suite. After the patient's loss of consciousness, the concentration of sevoflurane was reduced to 2% and the anaesthesia was then maintained with 2% sevoflurane in oxygen via the taped facemask connected to the MRI compatible anaesthesia machine (Point BF; TMS, Ankara, Turkey). A 22-gauge peripheral intravenous catheter was inserted. Standard monitoring was applied, including noninvasive blood pressure (BP), three-lead electrocardiography and pulse oximetry. Vital signs were BP of 95/60 mmHg, heart rate of 111 beats min−1, respiratory rate of 24 breaths min−1 and oxygen saturation was 99%. Positioning was optimised using a roll under the shoulders. The scan lasted 22 min and was uneventful. After the scan, she was taken to a recovery room and after 60 min was discharged home. With regard to the anaesthetic implications of incontinentia pigmenti, there are some important issues to be addressed. Due to X-linked dominant inheritance with prenatal lethality in males, approximately 90 to 97% of living affected individuals with incontinentia pigmenti are female. A small number of living males have been reported to be affected with Klinefelter syndrome, because the 47,XXY karyotype establishes a heterozygous genotype that is compatible with survival.3 The initial signs of incontinentia pigmenti are skin lesions such as erythematous, vesicular or bullous eruptions that emerge throughout the first year of life. The vesicular or bullous lesions occur in approximately 85% of patients, and epidermolysis bullosa, herpes simplex and chickenpox are included in the differential diagnosis in neonates. Hair, teeth and nails are the other commonly affected tissues.4 Because use of adhesive tapes on affected skin areas may result in blister formations, exfoliation and increased risk for infection, the use of adhesive tapes should be avoided as much as possible. Peripheral intravenous catheters may be secured with silicone-based tape and covered with gauze dressing. All adhesives on the ECG electrodes should be removed, and electrodes may be secured with silicone-based tape. Cotton tapes could be used to secure the endotracheal tube. The clip-on type of pulse oximetry may be preferred. One of the most serious manifestations of incontinentia pigmenti is ocular disorders. The prevalence of ophthalmic findings has been reported to be 25 to 77%.4 Retinal disorders are frequently observed and may lead to ischaemic infarction, retinal detachment and blindness. Nonretinal disorders such as strabismus and nystagmus, optic atrophy, cataracts, uveitis and conjunctival pigmentation may also be observed.5 Ocular manifestations, especially retinal findings, typically occur before the age of 2 years. Therefore, ocular examination under general anaesthesia is required for most patients. Dental and/or oral abnormalities are present in 54 to 80% of patients with incontinentia pigmenti, and approximately 65% of these are major abnormalities.4 The most frequent dental anomalies are shape anomalies and hypodontia. Approximately one-third of oral anomalies are palate anomalies such as cleft palate and high arched palate.6 The anaesthesiologist should evaluate the airway and must take the necessary precautions for difficult airway management because dental and oral abnormalities may make airway management and tracheal intubation difficult. At a frequency of approximately 30% in incontinentia pigmenti patients, central nervous system (CNS) abnormalities include seizures, mental retardation, hemiplegia, hemiparesis, spasticity, microcephaly and cerebellar ataxia. The initial signs of CNS abnormalities generally emerge within the first week of life. Neonatal seizures with typical skin lesions occur in approximately 30% of incontinentia pigmenti patients, and these are probably the most common findings that lead to a diagnosis of incontinentia pigmenti.7 Typical anticonvulsant therapy is the mainstay of treatment. However, treatment with dexamethasone to achieve cessation of clinical seizure activity has also been reported to be beneficial.8 The pre-operative examination of the incontinentia pigmenti patient requires a neurological consultation. There are also several reports of cardiac disorders associated with incontinentia pigmenti. Cases of incontinentia pigmenti accompanied by fatal or nonfatal pulmonary arterial hypertension (PAH) with or without structural abnormalities including left ventricular endomyocardial fibrosis, tricuspid insufficiency or acyanotic tetralogy of Fallot have been previously reported.9,10 Atallah et al.11 reported a child who had, at the age of 4 months, suffered a collapse during general anaesthesia, was resuscitated and diagnosed with severe pulmonary hypertension. Postoperative mortality rates have been reported as 1 to 18% in patients with PAH undergoing noncardiac surgery.12 Therefore, the pre-operative investigations of an incontinentia pigmenti patient should include chest radiography, electrocardiography and echocardiography with a full cardiac examination by a cardiologist. In conclusion, incontinentia pigmenti is a rare and unusual genodermatosis, which involves not only the skin; ocular, CNS and cardiac manifestations, especially pulmonary hypertension, have to be considered too. Anaesthesia may be required for diagnosis and/or treatment of manifestations in affected individuals. A multidisciplinary approach is particularly relevant for incontinentia pigmenti patients who require anaesthesia. Major comorbidities with significant anaesthetic consequences are common features in children with incontinentia pigmenti and that it is rather the comorbidity than the disease itself that often requires a multidisciplinary approach. Acknowledgements relating to this article Assistance with the letter: none. Financial support and sponsorship: none. Conflicts of interest: none." @default.
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• W3000491824 title "Anaesthesia and orphan disease" @default.
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