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Infantile obstructive apnea

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https://www.readbyqxmd.com/read/25706820/longitudinal-polysomnographic-findings-in-infantile-pompe-disease
#1
Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Zoheb Kazi, Richard M Kravitz, Priya S Kishnani
Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep-disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA)...
April 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24123966/polysomnographic-findings-in-infantile-pompe-disease
#2
Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Priya S Kishnani, Richard M Kravitz
Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to months of life in patients with classic infantile Pompe disease. Progression of the disease often leads to respiratory failure. Although sleep apnea is reported in late-onset Pompe disease, sleep pathology is not well characterized in infantile disease. In this retrospective study, we analyzed nocturnal polysomnography results from 17 patients with infantile-onset Pompe disease...
December 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/23776117/osteopathic-manipulative-treatment-for-pediatric-conditions-a-systematic-review
#3
REVIEW
Paul Posadzki, Myeong Soo Lee, Edzard Ernst
BACKGROUND AND OBJECTIVES: Most osteopaths are trained in pediatric care, and osteopathic manipulative treatment (OMT) is available for many pediatric conditions. The objective of this systematic review was to critically evaluate the effectiveness of OMT as a treatment of pediatric conditions. METHODS: Eleven databases were searched from their respective inceptions to November 2012. Only randomized clinical trials (RCTs) were included, if they tested OMT against any type of control in pediatric patients...
July 2013: Pediatrics
https://www.readbyqxmd.com/read/23155664/-results-of-the-use-of-laparoscopic-anti-reflux-procedure-for-the-prevention-of-episodes-of-apnea-bradycardia-and-desaturation
#4
V Marijuán, V Ibáñez, M Couselo, E Valdés, L Mangas, J Gómez-Chacón, J J VilaCarbó
In 1986 the National Institutes of Health Consensus Developement Conference on Infantile Apnea and Home Monitoring defined the Apparent Life Threatening Events (ALTEs) as those frightening episodes for the observer which are determined by a combination of apnea (central or obstructive), changes in colour (cianosis, congestive pallor) and marked changes in muscular tone, asphyxia. Despite the fact that its cause still remains unknown, many centres relate ALTE with gastroesophageal reflux disease (GERD) and therefore recommend medical treatment of GERD to those patients with ALTE...
July 2010: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/19896403/sleep-disorders-in-succinic-semialdehyde-dehydrogenase-deficiency-a-family-report
#5
Valentina M Racaru, Jean-Marc Pinard, Fawzia Cheliout-Heraut
BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare neurometabolic disorder involving the degradation of gamma-aminobutyric acid. Clinically, SSADH deficiency causes progressive or static encephalopathy with late infantile to early childhood onset. It is known that sleep disorders are a common clinical finding in these patients. However, very few studies have investigated sleep disorders with polysomnographies. AIM OF THE STUDY: To analyze sleep disorders breathing, sleep architecture and paroxysmal EEG activity through polysomnographic recordings of two siblings suffering from SSADH deficiency METHOD: Each patient underwent laboratory diurnal and overnight video-polysomnographic recordings in a room specially dedicated to mothers and their children...
May 2010: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/19003770/-adult-form-of-pompe-disease
#6
Bozena Ziółkowska-Graca, Aleksander Kania, Grazyna Zwolińska, Ewa Nizankowska-Mogilnicka
Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased. The infantile form is usually fatal. In the adult form of the disease the prognosis is relatively good. Muscle weakness may, however, interfere with normal daily activities, and respiratory insufficiency may be associated with obstructive sleep apnea...
2008: Pneumonologia i Alergologia Polska
https://www.readbyqxmd.com/read/18376286/airway-evaluation-and-management-in-7-children-with-malignant-infantile-osteopetrosis-before-hematopoietic-stem-cell-transplantation
#7
Kimberly A Kasow, Rose Mary S Stocks, Sue C Kaste, Sreekrishna Donepudi, Dawn Tottenham, Robert A Schoumacher, Edwin M Horwitz
Malignant infantile osteopetrosis (MIOP) is a rare disorder caused by dysfunctional osteoclasts. The classic MIOP features, such as frontal bossing, micrognathia, and small thorax, may place these children at risk for developing obstructive sleep apnea (OSA) and chronic hypoxemia. To objectively document OSA, airway evaluations were performed; results impacted management. We reviewed the records of 7 MIOP patients treated at St Jude. Six underwent polysomnograms during prehematopoietic stem cell transplantation (HSCT) evaluation...
March 2008: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/18210861/-three-infantile-cases-of-temporal-lobe-epilepsy-presenting-as-apnea
#8
Hiroto Akaike, Eiji Nakagawa, Kenji Sugai, Yoshinao Fujikawa, Hirofumi Komaki, Taisuke Ohtsuki, Masayuki Sasaki
We describe three cases of temporal lobe epilepsy in infancy presenting as repeated apneic attacks. In all cases, ictal electroencephalogram (EEG) showed unilateral focal high-voltage slow waves over the temporal or frontal areas. In two of the three cases, the epilepsy was due to mesial temporal tumors, and the apneic attacks disappeared following the removal of the tumor. Pathological examination identified ganglioglioma in both cases. In the remaining case, no focal lesions were found despite ictal EEG evidence of focal temporal abnormalities...
January 2008: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/17228820/-late-infantile-gm1-gangliosidosis-with-progressive-dilatation-of-common-bile-duct-and-obstructive-apnea-an-autopsy-case
#9
Ichiro Kuki, Kiyotaka Tomiwa, Shin Okazaki, Hiroko Ikeda, Hisashi Kawawaki
We report a 5-year-old autopsy case of late infantile type of GM1 gangliosidosis,which developed rare respiratory and intestinal complications. Obstructive apnea by adenoidal hypertrophy was improved by adenoidectomy, but the right bronchus was compressed by hilar lymph node swellings. The lymph nodes could not be treated surgically because of her poor general condition. There was hyperplasia showing foamy histiocyte including mucopolysaccharide which demonstrated a vacuolar formation containing irregular arranged fibrillar material on electron microscopy...
January 2007: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/15346037/a-reflectable-case-of-obstructive-sleep-apnea-in-an-infant-with-crouzon-syndrome
#10
Nobuyuki Mitsukawa, Kaneshige Satoh, Takashi Hayashi, Yoshihiko Furukawa, Tetsuji Uemura, Yoshiaki Hosaka
Obstructive sleep apnea has recently drawn attention as a cause of sudden death among infants. Life-threatening obstruction of the upper airway is encountered in patients with syndromic craniosynostosis. Early definitive management of obstructive sleep apnea can conquer this critical situation. Although early tracheostomy can solve the problem, successful early midfacial distraction has been reported. In this report, a reflectable case of sudden death caused by a severe obstructive sleep apnea attack at home just before the midfacial distraction, during the waiting period for the surgery of midfacial distraction, is described...
September 2004: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/14550958/obstructive-sleep-apnea-syndrome-due-to-adenotonsillar-hypertrophy-in-infants
#11
Michal Greenfeld, Riva Tauman, Ari DeRowe, Yakov Sivan
OBJECTIVE: Adenotonsillar hypertrophy (ATH) is the leading cause for obstructive sleep apnea syndrome (OSAS) in children. The peak age for adenoid and tonsillar hypertrophy and related OSAS is 3-6 years. It has been suggested that OSAS due to ATH is extremely rare in infants. The purpose of the present study was to delineate OSAS due to ATH in infants. METHODS: Twenty-nine consecutive infants <18 months of age who underwent polysomnography (PSG) and were diagnosed with OSAS due to ATH were studied...
October 2003: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/11314192/a-case-of-improved-obstructive-sleep-apnea-by-distraction-osteogenesis-for-midface-hypoplasia-of-an-infantile-crouzon-s-syndrome
#12
T Uemura, T Hayashi, K Satoh, N Mitsukawa, A Yoshikawa, T Jinnnai, Y Hosaka
We performed Le Fort III midfacial advancement with gradual distraction using internal devices on a 2-year 5-month-old boy with Crouzon's syndrome with associated severe obstructive sleep apnea. The device was not activated until 7 days after surgery, after which the distraction was initiated, 1 mm per day, and the midface was advanced 4 mm intraoperatively and distracted 12 mm postoperatively. A total advancement of 16 mm was obtained. The obstructive sleep apnea improved remarkably after the distraction. In infants and younger children with associated severe obstructive sleep apnea, advancement by distraction osteogenesis of the midface in Le Fort III maxillary osteotomy will be initially indicated to obviate tracheostomy improving the upper airway obstruction...
January 2001: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/11202344/-congenital-laryngomalacia-in-children
#13
REVIEW
M Grzegorowski, B Pucher
Laryngomalacia is the most common cause of congenital infantile stridor which is respiratory in all cases. It is first noted at birth and usually resolves spontaneously by the age of 2 years. In severe cases it may lead to life-threatening obstructive apnea, cor pulmonale and failure to thrive, and in these patients surgical intervention may be required. This anomaly has been described in the medical literature for over 100 years. The purpose of this study is to review the literature, present terminology, types of laryngomalacia, cause, pathogenesis and relationship with other diseases...
2000: Otolaryngologia Polska. the Polish Otolaryngology
https://www.readbyqxmd.com/read/11174619/infants-with-colic-have-a-normal-sleep-structure-at-2-and-7-months-of-age
#14
COMPARATIVE STUDY
J Kirjavainen, T Kirjavainen, V Huhtala, L Lehtonen, H Korvenranta, P Kero
OBJECTIVE: To compare nighttime sleep structure between infants with colic and a control group. STUDY DESIGN: Sleep and cry times of 15 infants with colic and 16 infants in a control group were recorded with the use of a daily diary at the ages of 5 weeks and 6 months. The diary was kept at home for a 1-week period. Overnight polygraphic sleep recordings in a sleep laboratory were performed when the infants were 2 months of age and were repeated for 11 infants with colic and 14 infants in a control group at 7 months of age...
February 2001: Journal of Pediatrics
https://www.readbyqxmd.com/read/11090602/site-and-mechanics-of-spontaneous-sleep-associated-obstructive-apnea-in-infants
#15
G W Don, T Kirjavainen, C Broome, C Seton, K A Waters
To examine the mechanics of infantile obstructive sleep apnea (OSA), airway pressures were measured using a triple-lumen catheter in 19 infants (age 1-36 wk), with concurrent overnight polysomnography. Catheter placement was guided by correlations between measurements of magnetic resonance images and body weight of 70 infants. The level of spontaneous obstruction was palatal in 52% and retroglossal in 48% of all events. Palatal obstruction predominated in infants treated for OSA (80% of events), compared with 38...
December 2000: Journal of Applied Physiology
https://www.readbyqxmd.com/read/9639480/malignant-infantile-osteopetrosis-otolaryngological-complications-and-management
#16
R M Stocks, W C Wang, J W Thompson, M C Stocks, E M Horwitz
OBJECTIVES: To inform otolaryngologists about upper airway obstruction requiring tracheotomy and other otolaryngological manifestations of malignant infantile osteopetrosis (MIOP) and to discuss pathophysiological features, management, and new treatment strategies in MIOP. DESIGN: Ongoing case series combined with a retrospective chart review. SETTING: International tertiary pediatric hospital. INTERVENTIONS: Patients with MIOP were initially referred for treatment and routine follow-up...
June 1998: Archives of Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/9533210/-neurophysiological-study-in-alpers-syndrome
#17
J M Martínez-Mena, A Manquillo, J Sáez, J M Galán, F Paradinas, C Revilla, M Martínez-Pardo, P Quintana
INTRODUCTION: Infantil progressive polydystrophy was described by Alpers in a child with psychomotor retardation, crises which were resistant to treatment and diffuse loss of cortical neurons. OBJECTIVE: The aim of this study was to review the neurophysiological aspects of Alpers syndrome and their clinical correlation. MATERIAL AND METHODS: We present three children with subacute encephalopathy, progressive psychomotor retardation, myoclonic epilepsy which was resistant to treatment and crises of apnea, who had degeneration of the cerebral grey matter...
January 1998: Revista de Neurologia
https://www.readbyqxmd.com/read/6368148/an-evaluation-of-theophylline-for-idiopathic-apnea-of-infancy
#18
N N Finer, K L Peters, L M Duffley, J H Coward
19 infants admitted with a diagnosis of infantile apnea who were found to have periodic breathing were given oral theophylline to determine its effect. They were studied at a mean age of 7.1 weeks (1-16.4 week). Each infant was studied during two naps, immediately before and 7 days following the institution of theophylline therapy, which averaged 2.8 h in duration during which electro-oculograms, end-tidal CO2, heart rate, impedance respirations, and transcutaneous pO2 (tcpO2) were continuously monitored. Theophylline therapy (mean dose 2...
1984: Developmental Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/6182156/a-recurrent-pattern-syndrome-of-craniosynostosis-associated-with-arachnodactyly-and-abdominal-hernias
#19
R J Shprintzen, R B Goldberg
A new syndrome of craniosynostosis is described in two unrelated male children. Associated anomalies include severe exophthalmus; maxillary and mandibular hypoplasia; soft tissue hypertrophy of the palatal shelves; low-set ears with soft, pliable auricles; thoracic anomalies; multiple abdominal hernias; arachnodactyly; and camptodactyly. Functional disorders include infantile hypotonia, developmental delay, mental retardation, and obstructive apnea. Karyotypes were normal. An etiology for this recurrent pattern syndrome has not yet been established in the absence of a family history of similar anomalies in both cases...
1982: Journal of Craniofacial Genetics and Developmental Biology
https://www.readbyqxmd.com/read/3789792/sleep-apnoea-in-infants-with-congenital-stridor
#20
F A Abreu e Silva, A Williams, H Simpson
Indices of central apnoea, respiration rate, heart rate, and body movements were comparable in seven infants with congenital stridor (infantile larynx) and matched controls. Obstructive sleep apnoea was only observed in three of seven infants with stridor. Periodic breathing was less common in infants with stridor than in controls.
November 1986: Archives of Disease in Childhood
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