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Anaesthesia and orphan disease

Dubowitz syndrome

Beer, Michael; Fiedler, Fritz

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European Journal of Anaesthesiology: August 2019 - Volume 36 - Issue 8 - p 620-622
doi: 10.1097/EJA.0000000000000959
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We report the anaesthetic management of a patient with intrauterine primordial microsomia (Dubowitz syndrome). To our knowledge, among the few reports of this syndrome the literature provides, there is only one report about anaesthesia in patients suffering from Dubowitz syndrome.1

Intrauterine primordial microsomia is a rare autosomal recessive condition2 which was first reported in 1965.3 This series of anomalies was later defined as Dubowitz syndrome by Grosse et al.4 in 1971. The precise cause of Dubowitz syndrome is unknown. Up to 1996, 141 cases were described worldwide.5 Dubowitz syndrome is characterised by mental and growth retardation (microcephaly, micrognathia),6 conspicuous behaviour (extreme shyness, hyperactivity) and skin diseases (eczema).7,8 The characteristic features of these patients include a receding chin, ptosis, blepharophimosis, low-set ears, sparse eyebrows and hair, as well as a flat nasal bridge with a broad nasal root. Other characteristics include a high-pitched hoarse voice, language problems, tooth6 and genital abnormalities, webbing of the fingers and toes, muscle weakness and hyperactivity, with short attention span.5 Details about known medical problems are shown in Table 1.5

Table 1
Table 1:
Clinical manifestations in 141 cases5

In the present case, a 34-year-old female patient (130 cm, 31 kg; Fig. 1) with diagnosed Dubowitz syndrome was scheduled for tympanoplasty surgery of her right ear. Written informed consent was obtained from the patient's parents for publication of this case report, including the picture.The patient had been suffering from relapsing periods (1 to 60 min) of dizziness during times of rest and movement. According to her medical history, she was born at 41 weeks by caesarean delivery. Growth and weight retardation had already been determined during pregnancy. Due to the characteristic features of the patient after birth in 1984, genetic examination was carried out on the parents, revealing a heterozygous state of an autosomal recessive mutation in both parents. In the past, the patient had undergone surgery including tonsillectomy, adenoidectomy as well as paracentesis of both ears. So far, anaesthesia had been uneventful. Due to her muscular dystonia and muscular weakness, the patient had almost permanently been confined to a wheelchair for the previous 4 years. At her parental home, limited walking was possible. Apart from myopathy, impaired hearing and Eustachian tube dysfunction of both ears, comorbid conditions included microcephaly, a receding chin, facial paresis on the left side and Hashimoto's thyroiditis. In addition, a central ocular disorder, which is quite common among patients with Dubowitz syndrome,5 had been reported. Neither severe mental retardation nor cardiovascular disorders were detectable. At the time of admission, her medication was L-thyroxine 50 μg once a day.

Fig. 1
Fig. 1:
Profile view and facial anomalies of the patient (with permission).

The pre-operative assessment detected indicators for a difficult airway even though the Mallampati score was defined as 1. Microcephaly, micrognathia, a small mouth opening of less than 3 cm as well as occasional gastro-oesophageal reflux, which can be present in some Dubowitz patients,9 demanded increased attention. Blood tests showed a slightly low haematocrit level of 36.5%, an increased platelet level up to 402 × 109 l−1 and a C-reactive protein concentration of 11 mg l−1.

The patient's medication was maintained on the day of surgery. As a result of the pre-operative assessment and the detection of possible airway management difficulties, we decided not to administer oral midazolam prior to surgery. To minimise the risks of any gastro-oesophageal reflux, the patient was given ranitidine on the night before (300 mg) and on the morning of surgery (150 mg). The surgical intervention was planned for 08:00 a.m. with an approximate duration of 1 h.

The patient received standard monitoring including noninvasive blood pressure (BP), ECG and pulse oximetry in the operating theatre. The monitoring revealed no pathological findings. Because the patient suffered from gastro-oesophageal reflux only occasionally, we decided against a rapid sequence induction. Nevertheless, suction was provided for immediate use, the head was raised slightly and equipment for the management of difficult airway was available. Oxygen 100% was applied via facemask for 3 min before induction of anaesthesia with fentanyl 100 μg (Fentanyl-hameln; Hameln Pharma Plus GmbH, Hamelin, Germany) and propofol 120 mg (Propofol MCT Fresenius; Fresenius Kabi Germany GmbH, Bad Homburg vor der Höhe, Germany). As mask ventilation was possible without difficulties, rocuronium 10 mg (0.3 mg kg−1 body weight) (Rocuroniumbrom Ham; Hameln Pharma Plus GmbH) was administered. There were two unsuccessful conventional tracheal intubation attempts with a paediatric Macintosh laryngoscope with blades of size 3 and 4. On laryngoscopy, only the epiglottis was visible and we decided on a grade 3 according to the classification by Cormack and Lehane. Finally, nontraumatic tracheal intubation using a 6-mm tube without any suspicion of aspiration was successful with a videolaryngoscope (C-Mac; Karl Storz, Tuttlingen, Germany) and a paediatric blade size 3 at the first attempt. On videolaryngoscopy, the oral cavity was classified as grade 1 according to the Cormack–Lehane classification.

Fulfilling two out of four factors in the Apfel score (nonsmoker, female), dexamethasone 4 mg (Dexamethason Jenapharm; Mibe GmbH, Sandersdorf-Brehna, Germany) was given at the beginning of surgery as postoperative nausea and vomiting prophylaxis. As a single-shot antibiotic, ampicillin 2 g and sulbactam 1 g (Unacid; Pfizer Pharma PFE GmbH, Berlin, Germany) were administered. Anaesthesia was maintained with propofol (5 to 6 mg kg−1 h−1) and fentanyl 150 μg. The SBP decreased below 80 mmHg once during surgery and was successfully treated with theodrenaline hydrochloride/cafedrine hydrochloride (1.5/25 mg) (Akrinor; Ratiopharm GmbH, Ulm, Germany).

Postoperative monitoring was conducted in our anaesthetic recovery room under close observation including measuring BP and oxygen saturation. For postoperative analgesia, piritramide 3 mg (Dipidolor; Hameln Pharma Plus) and metamizole 300 mg (Novalgin; Sanofi-Aventis GmbH, Frankfurt, Germany) were administered towards the end of the operation. The parents were present in the anaesthetic recovery room to help assess pain and anxiety. Fortunately, no extra analgesia was required by the patient. Approximately 30 min after the end of surgery, the patient was transferred from the recovery room to the ward in a stable condition. On postoperative day 3, she was discharged home without any complications. An anaesthesia problem card was given to the patient.

To our knowledge, there has been only one report of the anaesthetic management of an adult patient with Dubowitz syndrome1 so far. In our patient, intra-operative anaesthetic management was uneventful, but the induction phase demanded a high level of attention and additional equipment such as a paediatric videolaryngoscope. Furthermore, additional equipment for managing the difficult airway should be prepared for possible use. In conclusion, we recommend a detailed preanaesthetic evaluation and a high level of vigilance for the possibility of difficult tracheal intubation due to craniofacial and craniocervical abnormalities.6 Due to weak oropharyngeal muscles, a higher aspiration risk must be considered. Providing aspiration prophylaxis with, for example, an H2-receptor blocker seems to be reasonable1 and avoids the use of suxamethonium because of the risk of hyperkalaemic cardiac arrest in a patient with a history of longstanding poor mobility. Close postoperative monitoring including oxygen saturation and BP measurement, especially during recovery, is obligatory.

Acknowledgements relating to this article

Assistance with the letter: none.

Financial support and sponsorship: none.

Conflicts of interest: none.


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