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https://www.readbyqxmd.com/read/27375179/-congenital-neuromuscular-diseases-with-neonatal-respiratory-failure-excluding-myotonic-dystrophy-type-1-and-infantile-spinal-muscular-atrophy-diagnosis-strategy-according-to-a-19-child-series
#1
J Raignoux, U Walther-Louvier, C Espil, L Berthomieu, E Uro-Coste, F Rivier, C Cances
UNLABELLED: Apart from spinal muscular atrophy (SMA) and myotonic dystrophy type 1 (DM1), congenital neuromuscular diseases with early neonatal symptoms mean diagnostic and prognostic challenges mainly when infants require ventilatory support. OBJECTIVES: Consider a standardized strategy for infants suspected of congenital neuromuscular disease from analysis of the literature and retrospective experience with floppy and ventilatory support-dependent infants, after exclusion of well-known diseases (DM1, SMA)...
September 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27195025/a-structured-approach-to-the-assessment-of-a-floppy-neonate
#2
REVIEW
Molla Imaduddin Ahmed, Mehtab Iqbal, Nahin Hussain
Hypotonia in a newborn presents a diagnostic challenge for clinicians. It is an important clinical feature that may indicate an underlying systemic illness or neurological problem at the level of the central or peripheral nervous system. It is important to know the different presentations of hypotonia and to have the knowledge of the diagnostic work up which requires multidisciplinary assessment and input and the prognostic implications of these disorders. This review article presents a structured approach highlighting initial assessment, examination, and management of a neonate with generalized hypotonia...
January 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27066426/endonasal-microdebrider-assisted-excision-of-congenital-intranasal-nasolacrimal-duct-cyst-or-inferior-mucocoele
#3
B G Natesh, S Patil, E Nilssen, H Maclean
OBJECTIVE: Congenital intranasal nasolacrimal duct (NLD) cyst is a rare clinical entity in the newborn whilst inferior mucocoeles are more common. We reviewed our case series of the management of patients presenting with congenital intranasal NLD cysts and inferior mucocoeles treated using powered instrumentation under endoscopic guidance. METHODS: A retrospective review identified three patients, between 2010 and 2013, who have had microdebrider assisted endoscopic marsupialisation of congenital intranasal NLD cysts under joint ENT and Ophthalmology care...
March 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/26835232/exchange-transfusion-for-neonate-with-haemolytic-uremic-syndrome
#4
Bedangshu Saikia, Neetu Vashisht, Neeraj Gupta, Archna Sharma
INTRODUCTION: Haemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in children but it is uncommon in newborns. To our knowledge only five cases have been reported so far (probably underreported). The known modalities of treatment include transfusion of plasma and plasmapheresis. We report a case of neonatal HUS for whom we performed an exchange transfusion to good effect. CASE DESCRIPTION: A term vaginally born baby, meconium stained and floppy at birth presented with severe anaemia in the first few hours of life...
2016: SpringerPlus
https://www.readbyqxmd.com/read/26404458/recurrent-ventricular-tachycardia-in-medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency
#5
P Bala, S Ferdinandusse, S E Olpin, P Chetcuti, A A M Morris
We report a baby with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency who presented on day 2 with poor feeding and lethargy. She was floppy with hypoglycaemia (1.8 mmol/l) and hyperammonaemia (182 μmol/l). Despite correction of these and a continuous intravenous infusion of glucose at 4.5-6.2 mg/kg/min, she developed generalised tonic clonic seizures on day 3. She also suffered two episodes of pulseless ventricular tachycardia, from which she was resuscitated successfully. Unfortunately, she died on day 5, following a third episode of pulseless ventricular tachycardia...
2016: JIMD Reports
https://www.readbyqxmd.com/read/25890230/severe-congenital-nemaline-myopathy-with-primary-pulmonary-lymphangiectasia-unusual-clinical-presentation-and-review-of-the-literature
#6
REVIEW
Jariya Waisayarat, Chinnawut Suriyonplengsaeng, Chaiyos Khongkhatithum, Mana Rochanawutanon
INTRODUCTION: Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most serious form of the disease's spectrum. CASE PRESENTATION: The affected newborn has no spontaneous movement, fractures at birth and respiratory insufficiency. The present case was a Thai male, floppy at birth with fractures of both humeri and femurs and ventilator-dependent respiration...
2015: Diagnostic Pathology
https://www.readbyqxmd.com/read/25879901/notes-from-the-field-infant-botulism-caused-by-clostridium-baratii-type-f-iowa-2013
#7
Amaran Moodley, Patricia Quinlisk, Ann Garvey, Nicholas Kalas, Jason R Barash, Jessica M Khouri
In June 2013, a male newborn aged 9 days (delivered after a full-term pregnancy) was brought to a hospital emergency department with a 2-day history of constipation, fussiness, and poor feeding. The mother reported her son's symptoms as excessive crying, reluctance to suck, and difficulty in swallowing milk. Within hours of arrival, the infant became less responsive and "floppy," and was intubated for respiratory failure. Infant botulism was suspected and Botulism Immune Globulin Intravenous (Human) (BIG-IV), licensed for the treatment of infant botulism types A and B, was administered on hospital day 2...
April 17, 2015: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/24932094/transient-complete-atrioventricular-block-in-a-preterm-neonate-with-congenital-myotonic-dystrophy-case-report
#8
Hee Na Kim, Young Kuk Cho, Joo Hyun Cho, Eun Mi Yang, Eun Song Song, Young Youn Choi
Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period...
June 2014: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/24877491/a-neonate-with-critical-congenital-heart-disease
#9
Jarrett Linder, Emily Dawson, Paula Williams
Critical congenital heart disease (CCHD) is defined as a ductal-dependent congenital heart defect requiring surgical or percutaneous intervention via cardiac catheterization before 1 year of age. Most cases of CCHD can be diagnosed with prenatal ultrasound or fetal echocardiogram. If not prenatally diagnosed, CCHD can be stable in the newborn nursery due to persistent ductal patency, and the patient may only be diagnosed after ductal closure and development of cardiac symptoms at home. In this case, a 6-day-old female presented to the emergency department (ED) floppy with agonal respirations, poor capillary refill, and absent femoral pulses...
May 2014: Pediatric Annals
https://www.readbyqxmd.com/read/24813569/sustained-behavioral-effects-of-lithium-exposure-during-early-development-in-zebrafish-involvement-of-the-wnt-%C3%AE-catenin-signaling-pathway
#10
Laura R Nery, Natália S Eltz, Lídia Martins, Laura D Guerim, Talita C Pereira, Maurício R Bogo, Monica R M Vianna
Lithium has been the paradigmatic treatment for bipolar disorder since 1950s, offering prophylactic and acute efficacy against maniac and depressive episodes. Its use during early pregnancy and the perinatal period remains controversial due to reports of negative consequences on the newborn including teratogenic and neurobehavioral effects generally referred as Floppy baby syndrome. The mechanisms underlying lithium therapeutic action are still elusive but exacerbation of Wnt signaling pathway due to GSK-3 inhibition is believed to represent its main effect...
December 3, 2014: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/24481290/respiratory-function-and-near-infrared-spectroscopy-recording-during-cardiopulmonary-resuscitation-in-an-extremely-preterm-newborn
#11
Elliott S Li, Po-Yin Cheung, Gerhard Pichler, Khalid Aziz, Georg M Schmölzer
We describe a case highlighting several controversial and important topics regarding neonatal cardiopulmonary resuscitation (CPR). Current neonatal guidelines recommend a 3:1 compression:ventilation ratio; however, the most effective ratio of delivering chest compressions (CC) remains controversial. We report a case of a male infant at 24 weeks' postmenstrual age weighing 650 g on a background of preterm labor. At initial assessment the infant appeared floppy and apneic with a heart rate (HR) of 50-60 beats/min...
2014: Neonatology
https://www.readbyqxmd.com/read/24345998/ulnar-polydactyly-long-term-outcomes-and-cost-effectiveness-of-surgical-clip-application-in-the-newborn
#12
Janith K Mills, Marybeth Ezaki, Scott N Oishi
BACKGROUND: Postaxial polydactyly type B (PAPD-B) refers to the nonfunctional, floppy extra digit on the ulnar border of the hand. Suture ligation is applied in the newborn unit if the base is narrow or pedunculated. However, wart-like scars, residual bumps, or neuromas are frequent complications. Wider-based extra digits are treated at a later age by surgical excision under general anesthesia. Surgical clip application expands the indications for PAPD treatment in the newborn unit or outpatient setting with lesser incidences of complications...
May 2014: Clinical Pediatrics
https://www.readbyqxmd.com/read/24313005/-sibling-cases-of-severe-infantile-form-of-nemaline-myopathy-with-acta1-gene-mutation
#13
Akira Sudo, Yukiko Hayashi, Hitomi Sano, Nobuaki Kawamura, Ichizo Nishino, Ikuya Nonaka
Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle alpha-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous mutation;c.553C>T, p.R185C) in siblings presenting with different clinical symptoms and courses...
November 2013: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/24166571/nemaline-myopathy-in-a-newborn-infant-a-rare-muscle-disorder
#14
O Olukman, S Calkavur, G Diniz, A Unalp, F Atlihan
Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling...
September 2013: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/23743156/clinical-and-skeletal-muscle-biopsy-characteristics-of-25-patients-with-floppy-infant-syndrome
#15
Qi Bing, Jing Hu, Na Li, Hong-Rui Shen, Zhe Zhao
AIMS: Floppy infant syndrome (FIS) comprises of a group of disorders with a common symptom of generalized hypotonia at birth or in early life, which causes diagnostic challenge. In the current work, we aimed to describe the clinical and histopathological characteristics of FIS to help improve the diagnosis of this condition. METHODS: We collected information on the clinical characteristics, laboratory data, electrophysiological test results and detailed skeletal muscle biopsy histopathological features of 25 infants with FIS...
November 2013: Clinical Neuropathology
https://www.readbyqxmd.com/read/23346986/postoperative-normalization-of-left-ventricular-noncompaction-and-new-echocardiographic-signs-in-aorta-to-left-ventricular-tunnel
#16
Elaheh Malakan Rad, Ali Akbar Zeinaloo
We report postoperative normalization of left ventricular noncompaction in a neonate undergoing successful neonatal surgery for type II aorta to left ventricular tunnel (ALVT) associated with a large patent ductus arteriosus, floppy and extremely redundant anterior mitral leaflet, right coronary artery arising directly from the tunnel, and severe left ventricular noncompaction. We also described 2 novel echocardiographic findings in ALVT including "triple wavy line sign" on M-mode echocardiography which disappeared 1 month after operation and "abnormally increased left ventricular posterior wall motion" on M-mode of standard parasternal long-axis view on color tissue Doppler imaging (TDI) that also normalized postoperatively...
April 2013: Echocardiography
https://www.readbyqxmd.com/read/23242081/neonatal-intestinal-obstruction-secondary-to-a-floppy-meckel-s-diverticulum-successfully-treated-by-minimal-access-surgery
#17
Dayang Anita Abdul Aziz, Syariz I Sehat, Marjmin Osman, Faizah Mohd Zaki
Meckel's diverticulum has several known complications including diverticulitis and perforation. The presence of mesodiverticular band or a band from the diverticulum to the anterior abdominal wall is also described and can cause obstruction or rotation of the small bowel leading to volvulus. Meckel's diverticulum is also well known as the lead point for intussusception. It may be lined by ectopic gastric mucosa and can cause life-threatening gastrointestinal bleeding. We report a neonate who presented with acute intestinal obstruction secondary to a large, mobile Meckel's diverticulum which due to a direct compression effect on the adjacent small bowel caused mechanical intestinal obstruction...
2012: BMJ Case Reports
https://www.readbyqxmd.com/read/22970776/persistent-unilateral-white-out-in-preterm-infant
#18
Anoop Pahuja, Silke Lee
We would like to present a case of persistent right sided collapse in a preterm baby with an unexpected diagnosis. Baby X was born floppy requiring resuscitation and was intubated, ventilated and was transferred to NICU. There was decreased air entry on auscultation of right side of the chest, while the rest of the examination was normal. The chest X-ray showed right side white-out suggestive of collapse consolidation. She required significantly high ventilatory pressures to maintain saturations and chest X-ray performed on day 4 remained unchanged with persistent right sided white-out...
January 2013: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/22180956/-floppy-female-infant-with-congenital-hydrocephalus-hepatic-dysfunction-and-refractory-convulsions
#19
A Nakai
No abstract text is available yet for this article.
November 2011: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/22113158/a-rapid-immunohistochemical-test-to-distinguish-congenital-myotonic-dystrophy-from-x-linked-myotubular-myopathy
#20
Caroline A Sewry, Ros C M Quinlivan, Waney Squier, Glenn E Morris, Ian Holt
Severe forms of myotubular myopathy (MTM) and congenital myotonic dystrophy type 1 (CDM), both present as floppy infants with hypotonia, respiratory failure and bulbar insufficiency. Muscle biopsy is often performed as part of the diagnostic process, but these two disorders share very similar histopathological features. It is well documented that CDM muscle has nuclear foci that contain muscleblind-like 1 (MBNL1) protein. In muscle biopsies from eight neonates showing central nuclei, MBNL1 immunolocalisation identified discrete, intensely stained foci in three cases that were subsequently confirmed as CDM by DNA analysis...
March 2012: Neuromuscular Disorders: NMD
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