Congenital self-healing reticulohistiocytosis in a newborn: unusual oral and cutaneous manifestations.

BACKGROUND: Congenital self-healing reticulohistiocytosis (CSHRH), also called Hashimoto-Pritzker disease, is a rare and benign variant of Langerhans cell histiocytosis, characterized by cutaneous lesions without extracutaneous involvement. CASE PRESENTATION: We present a case of CSHRH with diffuse skin lesions and erosions in the oral mucosa, present since birth and lasting for 2 months, and we perform a review of the literature on Pubmed in the last 10 years. CONCLUSIONS: Our case confirm that lesions on oral mucosa, actually underestimated, may be present in patients with CSHRH. Patients affected by CSHRH require a close follow-up until the first years of life, due to the unpredictable course of Langerhans cell histiocytosis, in order to avoid missing diagnosis of more aggressive types of this disorder.

Rapid maxillary expansion outcomes in treatment of obstructive sleep apnea in children.

OBJECTIVES: The objectives of this study were to confirm the efficacy of rapid maxillary expansion in children with moderate adenotonsillar hypertrophy in a larger sample and to evaluate retrospectively its long-term benefits in a group of children who underwent orthodontic treatment 10 years ago. METHODS: After general clinical examination and overnight polysomnography, all eligible children underwent cephalometric evaluation and started 12 months of therapy with rapid maxillary expansion. A new polysomnography was performed at the end of treatment (T1). Fourteen children underwent clinical evaluation and Brouilette questionnaire, 10 years after the end of treatment (T2). RESULTS: Forty patients were eligible for recruitment. At T1, 34/40 (85%) patients showed a decrease of apnea-hypopnea index (AHI) greater than 20% (ΔAHI 67.45% ± 25.73%) and were defined responders. Only 6/40 (15%) showed a decrease <20% of AHI at T1 and were defined as non-responders (ΔAHI -53.47% ± 61.57%). Moreover, 57.5% of patients presented residual OSA (AHI > 1 ev/h) after treatment. Disease duration was significantly lower (2.5 ± 1.4 years vs 4.8 ± 1.9 years, p <0.005) and age at disease onset was higher in responder patients compared to non-responders (3.8 ± 1.5 years vs 2.3 ± 1.9 years, p <0.05). Cephalometric variables showed an increase of cranial base angle in non-responder patients (p <0.05). Fourteen children (mean age 17.0 ± 1.9 years) who ended orthodontic treatment 10 years previously showed improvement of Brouilette score. CONCLUSION: Starting an orthodontic treatment as early as symptoms appear is important in order to increase the efficacy of treatment. An integrated therapy is needed.

Sleep clinical record: an aid to rapid and accurate diagnosis of paediatric sleep disordered breathing.

Overnight polysomnography (PSG) is an expensive procedure which can only be used in a minority of cases, although it remains the gold standard for the diagnosis of sleep disordered breathing (SDB). The objective of this study was to develop a simple, PSG-validated tool to screen SDB, thus reducing the use of PSG. For every participant we performed PSG and a sleep clinical record was completed. The sleep clinical record consists of three items: physical examination, subjective symptoms and clinical history. The clinical history analyses behavioural and cognitive problems. All three items were used to create a sleep clinical score (SCS). We studied 279 children, mean ± SD age 6.1 ± 3.1 years, 63.8% male; 27.2% with primary snoring and 72.8% with obstructive sleep apnoea (OSA) syndrome. The SCS was higher in the OSA syndrome group compared to the primary snoring group (8.1 ± 9.6 versus 0.4 ± 0.3, p<0.005), correlated with apnoea/hypopnoea index (p=0.001) and had a sensitivity of 96.05%. Positive and negative likelihood ratios were 2.91 and 0.06, respectively. SCS may effectively be used to screen patients as candidates for PSG study for suspected OSA syndrome, and to enable those with a mild form of SDB to receive early treatment.

Mandibular advancement devices are an alternative and valid treatment for pediatric obstructive sleep apnea syndrome.

BACKGROUND: Orthodontic and craniofacial abnormalities have often been reported in pediatric sleep-disordered breathing (SDB). While the reversibility of these craniofacial abnormalities by means of adenotonsillectomy has yet to be established, orthodontic treatment based on oral appliances is considered to be a potential additional treatment for pediatric SDB. DISCUSSION: Oral appliances may help improve upper airway patency during sleep by enlarging the upper airway and/or by decreasing upper airway collapsibility, thereby enhancing upper airway muscle tone. Orthodontic therapy should be encouraged in pediatric OSAS, and an early approach may permanently modify nasal breathing and respiration, thereby preventing obstruction of the upper airway.

Efficacy of rapid maxillary expansion in children with obstructive sleep apnea syndrome: 36 months of follow-up.

PURPOSE: In view of the positive outcome of orthodontic treatment using rapid maxillary expansion (RME) on sleep-disordered breathing, we generated data on RME in children with obstructive sleep apnea (OSA) by evaluating objective and subjective data over a 36-month follow-up period, to determine whether RME is effective in the long-term treatment of OSA. We selected all patients with dental malocclusions and OSA syndrome (OSAS) confirmed by polysomnography. METHODS: Ten of the 14 children who completed the 12-month therapeutic trial using RME were enrolled in our follow-up study. The study was performed 24 months after the end of the RME orthodontic treatment. We enrolled all children presented with deep, retrusive or crossbite at the orthodontic evaluation. All subjects underwent an overnight polysomnography at the baseline, after 1 year of treatment and 24 months after the end of the orthodontic treatment. The children's mean age was 6.6 ± 2.1 years at entry and 9.7 ± 1.6 years at the end of follow-up. RESULTS: After treatment, the apnea hypopnoea index (AHI) decreased and the clinical symptoms had resolved by the end of the treatment period. Twenty-four months after the end of the treatment, no significant changes in the AHI or in other variables were observed. CONCLUSIONS: RME may be a useful approach in children with malocclusion and OSAS, as the effects of such treatment were found to persist 24 months after the end of treatment.

Pulse transit time for scoring subcortical arousal in infants with obstructive sleep apnea.

INTRODUCTION: An altered autonomic control and response to respiratory events during sleep have been reported in infants with obstructive sleep apnea but appropriate methods are not established. We assessed the feasibility of pulse transit time (PTT) in detecting subcortical arousals in eight infants (median age 7 days) suffering from the Pierre Robin sequence and obstructive sleep apnea. METHODS: Sleep studies including recordings of PTT performed before and after successful orthodontic treatment for their OSA were analyzed. PTT arousals (i.e., fall in PTT by > or =15 ms lasting for > or =3 s) were visually scored using specific analysis software. Apnea-related PTT arousals and spontaneous PTT arousals were distinguished and predicting factors for the occurrence of uninterpretable PTT signal and PTT arousals were analyzed. RESULTS: Six-hundred and seven apneas were analyzed. Uninterpretable PTT signal appeared in 394 (65%) apneas and were due to a disturbed pulse waveform in 63%. Predictors for the occurrence of uninterpretable PTT signal were type of apnea (odds ratio, 95% confidence interval for obstructive apnea = 0.5, 0.4-0.9) and duration of apnea (odds ratio, 95% confidence interval per second duration = 1.4, 1.3-1.5). Of 213 apneas with interpretable PTT signal, 43 (7% of all apneas) were followed by a PTT arousal. Predictor for their occurrence was treatment status (odds ratio, 95% confidence interval for pre-treatment status = 3.4, 1.3-8.8). Spontaneous PTT arousals during control periods appeared more frequently pre-treatment compared to post-treatment (41% vs. 16%; p-value = 0.001). There were only weak correlations between changes in PTT, heart rate, and arterial oxygen saturation (correlation coefficient <0.3). CONCLUSION: The feasibility of PTT in scoring apnea-related subcortical arousals in infants may be questionable. However, scoring spontaneous PTT arousals may be an approach for assessing sleep disruption in infants with obstructive sleep apnea.

NREM sleep instability changes following rapid maxillary expansion in children with obstructive apnea sleep syndrome.

OBJECTIVE: To evaluate NREM sleep microstructure in children with obstructive sleep apnea syndrome (OSAS) before and after one year of rapid maxillary expander (RME) treatment by means of the cyclic alternating pattern (CAP). METHODS: Nine children with OSAS aged 4-8 years (6 males, mean age 6.4+/-1.97 years) and age-matched normal controls were included. All subjects underwent an overnight polysomnography in the sleep laboratory after one adaptation night, as a baseline evaluation; children with OSAS were recorded again after one year of RME treatment. RESULTS: After one year of treatment the OSAS group showed a longer duration of time in bed and sleep period time, a reduction in number of stage shifts compared to baseline recordings, and the apnea-hypopnea index decreased significantly. At baseline, the OSAS group had a higher CAP rate during slow-wave sleep and an increased A2 index compared to normal controls. After one year of RME application, children with OSAS showed an increase in CAP rate associated with an increase of A1 index during slow-wave sleep. CONCLUSIONS: RME treatment almost normalized sleep architecture and improved sleep respiratory disturbances; however, sleep microstructure and respiratory parameters did not completely recover. The persistence of increased CAP rate in slow-wave sleep associated with an increase of A1 index might reflect a partial failure of orthodontic treatment. On the other hand, the rebound of A1 subtypes might be an indirect sign of an attempt to normalize sleep that has been disturbed by the respiratory events.

Rapid maxillary expansion in children with obstructive sleep apnea syndrome: 12-month follow-up.

OBJECTIVES: To assess the outcome of rapid maxillary expansion in the treatment of obstructive sleep apnea syndrome (OSAS) in children, we studied 16 patients (mean age 6.6+/-2.0; 9 males) with dental malocclusion, a body mass index < or =85 percentile, and OSAS confirmed by polysomnography. METHODS: At baseline and after the trial, all patients underwent physical examination, standard polysomnography and orthodontic assessment. The Brouillette questionnaire investigating symptoms of OSA was administered to parents before and during the trial to assess the clinical severity of their sleep-disordered breathing. Two treated patients were lost to follow-up and excluded from the final study. RESULTS: In the 14 treated subjects who completed the study and follow-up, polysomnography showed a significant decrease in the apnea-hypopnea index (p=0.005), hypopnea obstructive index (p=0.002) and arousal index (p=0.001). Questionnaire responses before and after treatment showed a significant decrease in the severity of symptoms. CONCLUSION: A rapid maxillary expander is an effective appliance for treating children with OSAS.