A newborn with grouped facial skin lesions and subsequent seizures.

BACKGROUND: Congenital grouped skin lesions are alarming signs of a variety of threatening diagnoses of quite different origin. The present case report shows an impressive clinical pattern of a neonate and illustrates the difficulty in differential diagnosis of mixed connective tissue disease and neonatal lupus erythematosus in newborns. This reported case is to our knowledge the first description of an unrecognized mixed connective tissue disease in the mother with an unusual clinical manifestation in the newborn, comprising skin lesions, neurological damage and non-typical antibody constellation. CASE PRESENTATION: We report on a Caucasian female neonate from a perinatally asymptomatic mother, who presented with grouped facial pustular-like skin lesions, followed by focal clonic seizures caused by multiple ischemic brain lesions. Herpes simplex virus infection was excluded and both the mother and her infant had the antibody pattern of systemic lupus erythematosus and neonatal lupus erythematosus, respectively. However, clinical signs in the mother showed overlapping features of mixed connective tissue disease. CONCLUSION: This case report emphasizes congenital Lupus erythematosus and mixed connective tissue disease as important differential diagnoses of grouped skin lesions in addition to Herpes simplex virus-infection. The coexistence of different criteria for mixed connective tissue disease makes it difficult to allocate precisely maternal and congenital infantile disease.

Treatment of obstructive sleep apnea in infants with trisomy 21 using oral appliances.

Objective : To perform a retrospective study to evaluate the effect of oral appliances, aimed at increasing the pharyngeal space, on obstructive sleep apnea (OSA) in infants with trisomy 21 (TS21). Design and Setting : Retrospective study in a tertiary referral center. Intervention : We analyzed data from 51 consecutive infants (mean age, 2.7 months) who underwent polysomnography (PSG) and were offered our treatment concept. Primary study variable was the mixed-obstructive apnea index (MOAI); OSA was defined as a MOAI ≥ 1. Results : Twenty-seven infants (53%) had OSA. Their median MOAI improved from 2.3 (1 to 13) to 0 (0 to 0.2; P < .05). Seven of these infants were treated with an appliance that included some type of velar extension to move the tongue base forward. Of the 24 infants without OSA at admission, follow-up PSG results were available for 13. Three infants from this group had developed OSA by the time of a repeat PSG. Conclusion : In patients with TS21, OSA may already develop in infancy. Early treatment may improve OSA. Oral appliances with some type of velar extension may be considered as an alternative to other treatment procedures.

An oral appliance with velar extension for treatment of obstructive sleep apnea in infants with Pierre Robin sequence.

OBJECTIVE: A new oral appliance to treat obstructive sleep apnea in infants with Pierre Robin sequence has recently been shown to be superior to a sham procedure. We now investigate safety and long-term effects of this appliance on obstructive sleep apnea in infants with Pierre Robin sequence. DESIGN: Case series with repetitive follow-up examinations. SETTING: Tertiary neonatal intensive care unit at the University Children's Hospital Tuebingen, Germany. PATIENTS: Fifteen infants (11 girls and four boys; median age, 5 days) with Pierre Robin sequence and obstructive sleep apnea (i.e., mixed-obstructive-apnea index > 3). INTERVENTION: A custom-made intraoral appliance with velar extension was used continuously in situ from admission until 3 months after hospital discharge. MAIN OUTCOME MEASURE: The mixed-obstructive-apnea index was determined prior to the intervention at admission, at discharge, and 3 months later using polygraphic sleep studies. The geometric mean of the mixed-obstructive-apnea index and its 95% confidence interval were calculated. RESULTS: Compared with admission (mean, 17.2; 95% confidence interval, 11.1-26.7), there was a significant decrease in the mixed-obstructive-apnea index to discharge (mean, 3.8; 95% confidence interval, 2.2-6.6) and 3 months later (mean, 1.2; 95% confidence interval, 0.7-2.2; p value < .001). No severe adverse events occurred. CONCLUSIONS: This oral appliance was safe and appears to treat obstructive sleep apnea effectively in infants with Pierre Robin sequence.

Mandibular growth in infants with Robin sequence treated with the Tübingen palatal plate.

BACKGROUND: Robin sequence (RS) is characterized by mandibular retrognathia, glossoptosis and upper airway obstruction. Whether mandibular catch-up growth may occur in RS is yet controversial. Our functional and less invasive treatment including the Tübingen Palatal Plate (TPP), early oral feeding and orofacial stimulation may promote mandibular catch-up growth. We evaluated the effect of the Tübingen Palatal Plate on mandibular growth, expressed by the Jaw index, sleep study results and weight gain in infants admitted with isolated and syndromic RS, born at or referred to our center between 6/2015 and 5/2018. METHODS: Retrospective analysis of our electronic patient database that included data on jaw index measurements, sleep study results and standard deviation (Z-)scores for weight. RESULTS: Of 31 patients referred for RS treatment (22 isolated, 9 syndromic), we had data on the above parameters, determined at admission, discharge and 3 months after discharge, in 20. Jaw index at admission and 3-month follow-up was 8.8 (6.3-11.3) and 2.1 (2.0-4.0), respectively (median (IQR); p < 0.0001). Mixed-obstructive apnea index (MOAI) decreased from 9.7 (4.8-24.2) to 0.0 (0-1.3; p < 0.002). No significant correlation was observed between MOAI and Jaw Index, but MOAI correlated with the Maxillary/Mandibular arch ratio (r = 0.58; p < 0.001). Z-scores for weight were similar at both time points at - 1.34 (- 1.76 - - 0.57) and - 1.50 (- 1.89 - - 0.54), while the proportion of infants requiring nasogastric tube feeding decreased from 84 to 8%. No infant had craniofacial surgery; one with syndromic RS required tracheostomy. CONCLUSION: These longitudinal cohort data suggest that the Tübingen Palatal Plate as used here may alleviate upper airway obstruction by promoting mandibular growth. TRIAL REGISTRATION: N.A.

Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis.

BACKGROUND: Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resistance syndrome (OSAS, UARS), potentially leading to tracheostomy. We modified the Tübingen Palatal Plate (TPP), an oral appliance with a velar extension effectively treating airway obstruction in Robin sequence, by attaching a tube to its velar extension to bridge the narrow pharyngeal airway in SCS patients. Here, we evaluated this treatment concept. METHODS: Our hospital's electronic patient files were searched for all children with a diagnosis of SCS admitted between 01/01/2004 and 31/12/2016. Children with isolated craniosynostosis were excluded. OSAS was defined as a mixed-obstructive apnea-hypopnea index (MOAHI) > 1, and UARS as more than 1 episode with nasal flow limitation/h, but absent OSAS. Children with a diagnosis of OSAS received the TPP and fiberoptic nasopharyngoscopy to assess the type of obstruction and to adjust the plate. Growth and weight gain, determined as standard deviation scores, were also evaluated before and during treatment. RESULTS: Of 34 patients included, 24 presented with SDB (19 OSAS, 5 UARS) and 27 had midface hypoplasia. Proportions of SDB were 78% in those with, and 22% in those without midface hypoplasia. In the OSAS group (n = 19), 13 patients were treated with palatal plates, with the remaining receiving continuous positive airway pressure, midface surgery or tracheal intubation. The MOAHI decreased across all children receiving palatal plate treatment from 14.6 (range 0.0-50.7) at admission to 0.9 (range 0.0-3.5) at discharge (p = 0.002). SDS for weight and body length also improved (p < 0.05 for weight and p = 0.05 for body length). Only one child required tracheostomy. CONCLUSION: Treatment of upper airway obstruction by a modified TPP in these children with SCS was shown to be mostly effective and safe. If confirmed in larger prospective studies, it may help to avoid more invasive interventions.

A randomized clinical trial of a new orthodontic appliance to improve upper airway obstruction in infants with Pierre Robin sequence.

OBJECTIVE: To test the hypothesis that a new orthodontic appliance with a velar extension that shifts the tongue anteriorly would reduce upper airway obstruction in infants with Pierre Robin sequence (PRS). STUDY DESIGN: Eleven infants with PRS (median age, 3 days) and an apnea index (AI) >3 were studied. The effect of the new appliance on the AI was compared with that of a conventional appliance without a velar extension by using a crossover study design with random allocation. RESULTS: Compared with baseline (mean AI, 13.8), there was a significant decrease in the AI with the new appliance (3.9; P value <.001), but no change with the conventional appliance (14.8; P = .842). Thus, the relative change in AI was -71% (95% CI, -84--49) for the new appliance and +8% (95% CI, -52-142) for the conventional appliance, which was significantly different (P = .004). No severe adverse effects were observed. CONCLUSION: This new orthodontic appliance appears to be safe and effective in reducing upper airway obstruction in infants with PRS.

Treatment of infants with Syndromic Robin sequence with modified palatal plates: a minimally invasive treatment option.

BACKGROUND: Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. METHODS: We searched our electronic departmental database to identify all children admitted to our department between 01/01/2003 and 31/12/2009 because of syndromic RS. UAO was quantified by cardiorespiratory sleep studies performed before and during treatment with a modified palatal plate. This appliance consists of a palatal part, covering the hard palate as well as the alveolar ridges and the potential cleft, and a velar extension shifting the tongue in a more anterior position, thereby opening the pharyngeal airway. It is adjusted by fiberoptic nasopharyngoscopy and controlled by cardiorespiratory sleep studies. Obstructive sleep apnea was defined as a mixed obstructive sleep apnea index (MOAI) >3/h. Feeding modalities before and after treatment and weight gain, determined as standard deviation score, were also evaluated. RESULTS: Of 68 children meeting inclusion criteria, 56 completed treatment (46 of these being infants). Underlying diagnoses included craniofacial dysostosis (N = 13) and synostosis syndromes (N = 5), unspecified dysmorphic syndromes (N = 23) and miscellaneous rare conditions (N = 27). Median MOAI decreased from 8.5 (range 0.3-76.0) at admission to 1.1 (0.0-5.2) at discharge (p < 0.001). 51 children received only a TPP and 5 additionally continuous positive airway pressure (CPAP) or high-flow nasal cannula during sleep for mild residual OSA. Three children ultimately required tracheostomy. The number of exclusively gavage fed infants was reduced from 23 to 7. Conversely, the number of children fed exclusively by mouth increased from 18 to 30. Median SDS for weight decreased from -1.6 (-3.5-1.7) to -1.3 (-4.1-2.5). Twelve children had their treatment prematurely discontinued, e.g. due to laryngeal collapse/laryngomalacia. No patient died during treatment. CONCLUSION: Treatment of UAO and feeding problems in these children with syndromic RS by a modified palatal plate with a velar extension was shown to be effective and safe. If confirmed in prospective studies, it may help to avoid more invasive interventions.

Functional treatment of airway obstruction and feeding problems in infants with Robin sequence.

BACKGROUND: Robin sequence (RS), characterised by micrognathia/retrognathia and glossoptosis with or without cleft palate, presents with intermittent upper airway obstruction and feeding difficulties. Active intervention is required to reduce the risk of brain damage or sudden death. Most treatment options are poorly studied and/or invasive. Our group developed a functional approach including early feeding training and the pre-epiglottic baton plate (PEBP), an orthodontic appliance with a velar extension shifting the base of the tongue forward. PATIENTS AND METHODS: We evaluated the effect of this approach on sleep study results and early weight gain by searching our electronic patient database for infants with isolated RS, born at or referred to our department between 1 January 2003 and 31 December 2012 and treated with the PEBP. RESULTS: Of 122 patients identified, 360 overnight sleep study results, obtained at admission, prior to hospital discharge and 3 months postdischarge, were available (117 infants had complete data). These showed a decrease in the mixed-obstructive apnoea index from (median; IQR) 8.8 (2.1-19.7) to 1.8 (0.6-5.4); p<0.001 and 0.2 (0-1.3); p<0.001, respectively. Z-scores for weight improved from -0.7 (-1.39 to -0.24) upon admission to -0.5 (-0.90 to +0.02) at follow-up (p=0.02), accompanied by a decrease in the proportion of infants requiring nasogastric tube feeding from 66% to 8%. No infant required craniofacial surgery or tracheostomy. CONCLUSIONS: These longitudinal cohort data suggest that this functional approach may be an option to treat both, upper airway obstruction and feeding problems, in infants with isolated RS.

Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence.

BACKGROUND: Treatment of Robin sequence is often either invasive or of unproven effectiveness. The pre-epiglottic baton plate (PEBP) is a well-studied alternative, yet is not widely applied internationally. We report on a prospective 3-center cohort study investigating this treatment. Based on an agreed protocol, parents of infants with Robin sequence referred to participating centers were offered enrollment, which involved taking a maxillary cast followed by endoscopy to fit the plate and sleep studies to monitor its effectiveness. Recordings were centrally analyzed by sleep specialists blinded to timing and center. Primary outcome was the mixed-obstructive apnea index, defined as the number of such apneas/h of sleep; secondary outcomes included the desaturation index to <80% pulse oximeter saturation and weight gain. RESULTS: Of 75 infants referred, 49 could be included; 1 center failed to perform appropriate sleep studies. Within a mean hospitalization of 3 weeks, the mixed-obstructive apnea index decreased (median; interquartile range) from 15.9 (6.3-31.5) to 2.3 (1.2-5.4); it decreased further to 0.7 (0.1-2.4) in the 32 infants who had a successful 3-month follow-up sleep study performed. The desaturation index normalized (from 0.38 (0-2.7) to 0.0 (0-0.1)). Mean standard deviation score for weight remained unchanged between admission and follow-up, while the proportion of tube-fed infants decreased from 74 to 14%. CONCLUSIONS: This prospective multi-center cohort study confirms retrospective audits on the effectiveness of PEBP treatment in improving upper airway obstruction and feeding problems, the main clinical problems of infants with Robin sequence. International collaboration is required to compare this with other treatment approaches. TRIAL REGISTRATION: Number NCT02266043 , Registered 30/09/2014; registered partially retrospectively.

[The Tübingen palatal plate--an innovative therapeutic concept in Pierre-Robin sequence]. / Die Tübinger Gaumenplatte--Ein innovatives Therapiekonzept bei Pierre-Robin-Sequenz.

Infants with Pierre-Robin sequence (PRS) may suffer severe upper airway obstruction resulting in hypoxemia that is difficult to treat. We are currently evaluating a new therapeutic approach involving an oral appliance that widens the pharynx by pulling the base of the tongue forward using a preepiglottic baton. Here we present a patient treated with this device who showed a decrease in his desaturation index from 50 to < 1.

Autosomal dominant precalcaneal congenital fibrolipomatous hamartoma.

Precalcaneal congenital fibrolipomatous hamartoma is a rare minor malformation previously reported only as sporadic. We report this finding in three family members from two generations, suggesting autosomal dominant inheritance.