The Effect of Tonsillectomy and Adenoidectomy on Isolated Sleep Associated Hypoventilation in Children.

OBJECTIVE: Sleep associated hypoventilation (SAH) is diagnosed when more than 25% of total sleep time (%TST) is spent with end tidal carbon dioxide (EtCO2 ) > 50 mmHg. SAH in children occurs as a single entity or combined with obstructive sleep apnea. Outcomes of surgical treatment for isolated SAH in children have not been reported. METHODS: The medical charts of children who were diagnosed with isolated SAH and did not have OSA at a tertiary children's hospital between January 2013 and December 2019 were reviewed. Data collection included information on history and physical examination, past medical history, polysomnography (PSG) findings, and surgical management. RESULTS: Seventeen children (10 male, 7 female, age range: 3-14 years) were diagnosed with isolated SAH. Comorbid conditions included asthma in four children, Down syndrome in one, and seizure in two. Eight children were normal weight, four were overweight, and five were obese. Children did not have obstructive or central sleep apnea. Three children (18%) had persistent SAH as documented by PSG. All normal weight children had resolution of SAH whereas two obese children and one overweight child had residual SAH. %TST with CO2 > 50 mmHg after upper airway surgery (3.4% ± 1.6%) was significantly less than that of before TA (59.1% ± 5.5%) (P < .001). CONCLUSIONS: The majority of children with isolated SAH had normalization of hypercapnia after TA. Further studies in larger groups of children are needed to identify the risk factors for residual isolated SAH after TA. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:E1380-E1382, 2021.

Clinical features of children with Haddad syndrome: A single-center experience.

BACKGROUND/PURPOSE: Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment. METHODS: Medical records of patients diagnosed with HS from 2005 to 2016 were retrospectively reviewed. Demographic data including gestational age, birth weight and height, and paired-like homeobox 2b (PHOX2B) gene mutation were collected. RESULTS: Seven males and three females were identified (mean gestational age 39.76 ±â€¯1.49 weeks, mean birth weight 3117.5 ±â€¯288.9 g). PHOX2B gene mutation was identified in all patients. Immediate ventilation care after birth was required in five patients due to poor respiration. The current median age of the children is 5.4 years (range, 1.8-10.1). Tracheostomy was performed in nine patients. Eight patients required sleep ventilation and two patients, 24-h continuous ventilation support. Six patients showed rectosigmoid aganglionosis and four patients exhibited total colonic aganglionosis, of these one had aganglionosis extended to the distal small bowel. Soiling was observed in seven patients (5 with laparoscopy-assisted transanal endorectal pull-through and 2 with Duhamel procedure) and one patient showed grade 2 constipation with Duhamel procedure. Six patients had developmental delay. All patients are alive. CONCLUSIONS: HS may require lifelong medical care. This study could be helpful to understand the clinical features of HS including associated abnormalities and disease progression. By assisting to understand the clinical features, we could provide better care for HS patients by achieving an earlier diagnosis and appropriate treatment. TYPE OF STUDY: Prognosis study. LEVEL OF EVIDENCE: Level IV.

Rapid onset of altered mental status with progressive autonomic instability and hypoventilation in a 2-year-old male.

Nazari R, Carmona Jr CA. Rapid onset of altered mental status with progressive autonomic instability and hypoventilation in a 2-year-old male. Turk J Pediatr 2019; 61: 949-952. Anti N-methyl-D-aspartate receptor (NMDAR) encephalitis should be suspected in children who report with acute behavioral change, seizures, and non-specific movement disorders. While historically associated with adolescent females with ovarian teratoma, anti-NMDAR encephalitis has now been described in the pediatric population of both sexes. These patients display the neurological and psychiatric manifestations similar to females but lack a tumor. We report a two-year-old previously healthy young male who presented with alteration in speech, seizures, and extra pyramidal movement disorders. He was diagnosed with anti-NMDAR encephalitis with positive cerebrospinal fluid (CSF) serology for anti-NMDAR antibodies. In this case report, we describe the clinical presentation, course of illness, investigation, and management of our patient. We conclude by emphasizing three observations and insights from our case compared to what is mentioned in the literature.

More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy.

We report a newborn infant who presented with poor Apgar scores and umbilical artery acidosis leading to the diagnosis of hypoxic ischaemic encephalopathy. During the course of the infant's hospitalisation, subsequent workup revealed an underlying genetic cause that masqueraded as hypoxic ischaemic encephalopathy.

Alternative methods of lung isolation in cases of pediatric bilateral thoracoscopic surgery.

We compare airway management and lung isolation methods in two pediatric cases of congenital central hypoventilation syndrome undergoing bilateral throacoscopic phrenic-nerve-stimulator surgery. One child received lung isolation using a 7Fr bronchial blocker in conjunction with a 6.0 cuffed endotracheal tube; and the second received a technique of endobronchial intubation using a 3.5 microcuffed tube via the tracheostomy stoma in conjunction with 5.0 cuffed endotracheal intubation; a technique previously undescribed in pediatric patients.

Surgical Management of Pierre Robin Sequence: Using Mandibular Distraction Osteogenesis to Address Hypoventilation and Failure to Thrive in Infancy.

Mandibular hypoplasia may present in isolation or in the context of glossoptosis and a U-shaped, incomplete cleft palate. This latter triad is referred to as Pierre Robin sequence. Deleterious effects of micrognathia that may present during infancy are due primarily to glossoptosis or posterior displacement of the tongue. This tongue base prolapse may cause varying degrees of upper airway obstruction. A surgical option for management of tongue base airway obstruction secondary to mandibular hypoplasia is neonatal mandibular distraction osteogenesis. Herein, the author seeks to outline the benefits and limitations of early mandibular distraction osteogenesis as a way of managing airway obstruction and feeding difficulty in newborns with micrognathia. A description of the author's operative technique as well as potential complications and pitfalls will also be discussed.

Phrenic Nerve Stimulation: Technology and Clinical Applications.

Phrenic nerve stimulation is a technique used to reanimate the diaphragm of patients with central nervous system etiologies of respiratory insufficiency. Current clinical indications include congenital central hypoventilation syndrome, spinal cord injury above C4, brain stem injury, and idiopathic severe sleep apnea. Presurgical evaluation ensures proper patient selection by validating the intact circuit from the phrenic nerve through alveolar oxygenation. The procedure involves placing leads around the phrenic nerves bilaterally and attaching these leads to radio receivers in a subcutaneous pocket. The rate and amplitude of the current is adjusted via an external radio transmitter. After implantation, each patient progresses through a conditioning phase that strengthens the diaphragm and progressively provides independence from the mechanical ventilator. Studies indicate that patients and families experience an improved quality of life and are satisfied with the results. Phrenic nerve stimulation provides a safe and effective means for reanimating the diaphragm for certain patients with respiratory insufficiency, providing independence from mechanical ventilation.

Anesthetic considerations for rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction (ROHHAD) syndrome in children.

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction is an increasingly common diagnosis in patients who are being seen at tertiary care children's hospitals. We present two cases of anesthetics from the authors' own experience in addition to a comprehensive review of the disorder and anesthetic implications.

Pseudo-piano playing motions and nocturnal hypoventilation in anti-NMDA receptor encephalitis: response to prompt tumor removal and immunotherapy.

Tumor resection is recommended in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, however it is often difficult during an early stage of the disease. We report here the efficacy of early tumor removal in a patient with anti-NMDAR encephalitis. This 21-year-old woman was admitted to another hospital with rapidly progressive psychiatric symptoms, a decreased level of consciousness, and seizures. Abdominal CT showed a pelvic mass. On day 1 of admission to our center, she developed hypoventilation requiring mechanical support. She had orofacial dyskinesias with well-coordinated, pseudo-piano playing involuntary finger movements. Based on these clinical features, she was immediately scheduled for tumor resection on day 3. While awaiting surgery, she began to receive high-dose intravenous methylprednisolone. After tumor removal, she received plasma exchange, followed by intravenous immunoglobulin and additional high-dose methylprednisolone. Two weeks after tumor removal, she started following simple commands and progressive improvement, although she remained on mechanical ventilation for 10 weeks due to nocturnal central hypoventilation. Anti-NMDAR antibodies in serum/CSF were detected. Pathological examination showed immature teratoma with foci of infiltrates of B- and T-cells. Early tumor resection with immunotherapy facilitates recovery from this disease, but central hypoventilation may require long mechanical support. Non-jerky elaborate finger movements suggest antibody-mediated disinhibition of the cortico-striatal systems.

Síndrome de hipoventilación central congénita y su continuidad asistencial en atención primaria / Congenital central hypoventilation syndrome and continuity in Primary Health Care

Los avances científicos y las mejoras socioeconómicas han repercutido en los avances técnicos y terapéuticos y cambiado el mapa de actuación del pediatra y de la pediatría. Hoy en día, enfermedades que antes resultaban letales han visto modificada su evolución y la supervivencia de los pacientes ha aumentado, dando paso a situaciones de cronicidad. Así, las patologías que sólo tenían un abordaje hospitalario pueden ahora tratarse en atención primaria, lo cual precisa, además de una familia implicada y capaz de ocuparse de los cuidados necesarios, disponer de recursos materiales y de profesionales dispuestos a asumir dicha tarea. Presentamos el caso de una niña de 19 meses con síndrome de hipoventilación central congénita (SHCC) –enfermedad probablemente infradiagnosticada y caracterizada por hipoventilación durante el sueño– que necesita ventilación asistida a través de traqueostomía, con alimentación enteral a débito continuo por gastrostomía, y en la que al existir la posibilidad de traslado a una vivienda próxima al hospital se plantea el alta hospitalaria. Se traza un plan de actuación y coordinación entre el hospital, el centro de salud, los padres, el distrito sanitario, la gerencia del hospital y el servicio de emergencias. Además, se protocoliza la actuación a seguir en atención primaria, en la que se implica a otros profesionales del centro de salud: pediatra, enfermera y trabajador social. En este artículo, se comunica la experiencia llevada a cabo tras 9 meses de seguimiento (AU)

The scientific advances and socio-economic improvements have had an impact on technical and therapeutic advances, changing the chart of the paediatrician’s and pediatrics performance. Diseases that used to be lethal before have changed their evolution at present with an increase in the children´s survival, leaving them in chronic situations. Thus, diseases that previously only had a hospital boarding can now be treated in Primary Health Care, which would require material resources and professionals willing to undertake this task, beside an involved family, able to deal with the necessary cares. We present a congenital central hypoventilation syndrome, a disease probably under diagnosed and characterized by hypoventilation during sleep, in a 19-months girl who needs assisted ventilation during sleep through tracheotomy, with continuous debit enteral nutrition by gastrostomy, and considering the possibility of moving her to a house close to the hospital, discharge is set out. An action plan and coordination between Hospital Health Center, parents, Health District, Hospital Management and Emergencies is drawn up. The steps to be taken are protocolized at the Primary Health Care, in which the rest of the professionals of the Health Centre is involved in her assistance and with the express management by the appointed pediatrician, nurse and social worker. The experience carried out after 9months of follow-up is informed (AU)

Severe respiratory compromise secondary to cervical disk herniation in two dogs.

Two dogs presented with acute tetraparesis, hypoventilation, and bradycardia with a second-degree atrioventricular heart block. Neurological examination localized both lesions to the cervical spine. Diagnostic imaging revealed a ventral extradural compression at the second to third cervical (C(2)-C(3)) region in one dog and at the third to fourth cervical (C(3)-C(4)) region in the other. Following surgical correction of the extruded disk, the hypoventilation and bradycardia resolved. Cervical disk extrusions are a common cause of acute tetraparesis in the dog. This report shows that respiratory and cardiac complications may occur concurrently. The authors recommend screening dogs with cervical myelopathies for respiratory and cardiac dysfunctions and treating appropriately. Prompt surgical intervention and supportive care can improve the prognosis.

[Simultaneous, bilateral and permanent ventilation with a diaphragm pacing in childhood: the implantation technique and indications]. / Ventilación permanente, bilateral y simultánea con marcapasos diafragmático en la infancia: Indicaciones y técnica de implante.

The acute effects of external stimulation were well demonstrated by the turn of the century, but the chronic application had to wait until the advent of the modern pacemaker technology. Since 1983 we have implanted bilateral diaphragm pacing in ten infants and adolescents with quadriplegia and central hypoventilation syndrome. The preferred site of implantation was the thoracic phrenic nerve. The electrophysiological status of the phrenic nerve function has before been determined in all patients. We have got bilateral and continuous ventilation, in all patients, but, in quadriplegics is necessary a conditioning period. Long term stimulation of the phrenic nerves to pace the diaphragm is an effective method of ventilatory support in selected cases.

Hemodynamic dysfunction in obesity hypoventilation syndrome and the effects of treatment with surgically induced weight loss.

Obesity hypoventilation syndrome (OHS), defined as a PaO2 less than or equal to 55 mmHg and/or PaCo2 greater than or equal to 47 mmHg, was found in approximately 8% of morbidly obese patients undergoing gastric surgery for morbid obesity and was frequently associated with clinically significant pulmonary hypertension and cardiac dysfunction. Forty-six morbidly obese patients, 26 with and 20 without OHS, underwent preoperative pulmonary artery catheterization. Although the two groups had similar values for percent ideal body weight, blood pressure, and cardiac index, the OHS patients had significantly higher mean pulmonary artery pressures (PAP), p less than 0.0001, and pulmonary artery occlusion pressures (PAOP), p less than 0.01. Eighteen OHS patients were restudied 3-9 months after gastric surgery. PaO2 increased from 50 +/- 10 to 69 +/- 14 mmHg, p less than 0.0001, and PaCO2 decreased from 52 +/- 7 to 42 +/- 4 mmHg, p less than 0.0001), after the loss of 42 +/- 19% excess weight. These changes were associated with significant decreases in PAP (from 36 +/- 14 to 23 +/- 7 mmHg, p less than 0.0001) and PAOP (from 17 +/- 7 to 12 +/- 6 mmHg, p less than 0.01). Significant correlations were noted between PAP and PAOP (r = +0.8, p less than 0.0001) and PAP and PaO2 (r = -0.6, p less than 0.0001). Both left ventricular dysfunction, defined as a PAOP greater than or equal to 18 mmHg, as well as pulmonary artery vasoconstriction, defined as PAEDP greater than 5 mmHg above PAOP, contributed to pulmonary hypertension in OHS patients. In conclusion, weight loss after gastric surgery for morbid obesity significantly improved arterial blood gases and hemodynamic function in OHS patients.