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Floppy baby

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
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
Katherine Hebert, Demetris Haritos, Nirupama Kannikeswaran
Pompe disease is a rare inherited disorder of glycogen metabolism. We present a case of a 9-month-old infant who presented to the emergency department with generalized hypotonia and respiratory distress and was found to have Pompe disease. In this article, we will review the differential diagnosis of hypotonia in the infant, presentations of hypotonia that are relevant to the emergency department physician, as well as the diagnosis, management, and prognosis of Pompe disease.
June 2015: Pediatric Emergency Care
Michael Fahey
No abstract text is available yet for this article.
April 2015: Journal of Paediatrics and Child Health
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
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
C O Abdulla, A Ayubi, F Zulfiquer, G Santhanam, M A S Ahmed, J Deeb
An apparently well baby girl born at term was presented with signs and symptoms suggestive of acute onset of generalised floppiness at the age of 3 months. Clinically, the baby had lower motor neuron type of muscle weakness; detailed investigation lead to the diagnosis of neuromuscular junction disorder secondary to botulism toxicity. Further tests confirmed the botulism toxicity secondary to honey ingestion. The baby was treated with specific anticlostridium antibodies; she recovered remarkably, now growing and developing normally...
2012: BMJ Case Reports
Hui Jiao, Hui Xiong, Yan-zhi Zhang, Shuo Wang, Yan-ling Yang, Xi-ru Wu
OBJECTIVE: To study the clinical feature of a Chinese family with muscle-eye-brain disease (MEB) and the mutation of protein O-linked-mannose beta-1, 2-N-acetylglucosaminyltransferase 1 gene (POMGNT1). METHODS: Clinical data of the proband and his family members were collected. Genomic DNA from the patient and his parents was extracted using standard procedures from the peripheral blood leukocytes. Polymerase chain reaction and DNA direct sequencing were employed to analyze all of the exons to determine the mutation, and the relationship between genotype and phenotype was analyzed...
October 2011: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Waney Squier
The "Shaken Baby" syndrome (SBS) is the subject of intense controversy; the diagnosis has in the past depended on the triad of subdural haemorrhage (SDH), retinal haemorrhage and encephalopathy. While there is no doubt that infants do suffer abusive injury at the hands of their carers and that impact can cause catastrophic intracranial damage, research has repeatedly undermined the hypothesis that shaking per se can cause this triad. The term non-accidental head injury has therefore been widely adopted. This review will focus on the pathology and mechanisms of the three physiologically associated findings which constitute the "triad" and are seen in infants suffering from a wide range of non-traumatic as well as traumatic conditions...
November 2011: Acta Neuropathologica
Ritambhra Nada, Kirti Gupta, Sadhna Bhasin Lal, Rakesh Kumar Vasishta
We describe an autopsy case of a 1-year-old male baby presenting with failure to gain milestones, floppiness, and reddish skin lesions since birth. Fundoscopic examination revealed bilateral cherry-red spots in the macula. The baby died of respiratory failure and autopsy revealed numerous ballooned neurons and astrocytes with cytoplasmic storage material seen throughout central white matter, basal ganglia, cerebellum, choroid plexus, and brain stem. There was neuronal degeneration with loss of myelin in central white matter with axonal degeneration as well...
December 2011: Metabolic Brain Disease
Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, Jeng-Daw Tsai, Chen-Yu Chen, Shin-Lin Shih, Fuu-Jen Tsai, Pei-Chen Wu, Wayseen Wang
OBJECTIVE: To present prenatal ultrasound and perinatal magnetic resonance imaging (MRI) findings of Galloway-Mowat syndrome. CASE REPORT: A 31-year-old woman, gravida 3, para 2, was referred for genetic counseling at 29 weeks of gestation because of abnormal ultrasound findings and a previous child with Galloway-Mowat syndrome. During this pregnancy, microcephaly, intrauterine growth restriction (IUGR), and oligohydramnios were first noted at 27 weeks of gestation...
June 2011: Taiwanese Journal of Obstetrics & Gynecology
J-L Chabernaud, N Gilmer, N Lodé, C Boithias, A Ayachi
For apneic or bradycardic babies born at term, it is best to begin ressuscitation in the delivery room with air rather than 100% oxygen. Administration of supplementary oxygen should be regulated by blending oxygen and air, and the concentration delivered should be guided by oximetry. Preterm babies less than 32 weeks gestation may not reach the same arterial blood oxygen saturations in air as those achieved by term babies. Therefore, blended oxygen and air should be given guided by pulse oximetry. Detection of exhaled carbon dioxide in addition to clinical assessment is recommended as the most reliable method to confirm placement of a tracheal tube in neonates...
May 2011: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
L J Schlapbach, B Schütz, J M Nuoffer, C Brekenfeld, G Müller, S Fluri
We report the case of a 7 month-old girl that presented with acute anemia, generalized muscular hypotonia and failure to thrive. Laboratory evaluation revealed cobalamin deficiency, due to a vegan diet of the mother. The clinical triad of an acquired floppy baby syndrome with megaloblastic anemia and failure to thrive is pathognomic for infantile cobalamin deficiency. Neurological abnormalities are often irreversible and may be associated with delayed myelinization in the MRI. A normal cobalamin level in maternal serum and absence of anemia do not exclude subclinical deficiency...
August 29, 2007: Praxis
Jasmina Dindić, Slobodan Obradović
Asphyxia i a condition caused by lack of oxygen in tissues and organs. The basic pathogenic mechanisms of asphyxia are: 1)hypoxemia, 2) ischemia. The effects of perinatal asphyxia on the brain of a neonatal baby are critical in development of hypoxic-ischemic encephalopathy. The diagnosis of hypoxic-ischemic encephalopathy is based on clinical data including course of pregnancy and delivery (Apgar score) and especially on the neurological status of the newborn (consciousness, tonus, convulsions, reflexes, vegetative functions, etc...
November 2006: Medicinski Pregled
K B Naeem, Mansoor Ahmed
22q II deletion syndrome, characterized by deletion of long arm of chromosome 22, encompasses a wide range of clinical features, mainly congenital heart defects, facial dysmorphism, palatal defects, feeding problems, immune deficiency and hypocalcaemia. We report a case of 8 days old baby with 4 day history of stridor, feeding problems and vomiting. He was found to have some dysmorphic features and proven to have this deletion syndrome on FISH (Fluorescent In Situ Hybridization) testing. He was then effectively managed by a multi-disciplinary team effort...
June 2007: JPMA. the Journal of the Pakistan Medical Association
Tahir Saeed Siddiqui
Nutritional rickets has multiple presentations like skeletal deformities, tetany, hypocalcemic seizures, recurrent diarrhea, dental abnormalities, developmental delay and floppiness. Here a rare presentation of nutritional rickets is reported in five months old baby who had respiratory distress since two months and signs of respiratory distress resolved after start of vitamin-D supplementation.
July 2006: Journal of Ayub Medical College, Abbottabad: JAMC
R Rodney Howell, Barry Byrne, Basil T Darras, Priya Kishnani, Marc Nicolino, Ans van der Ploeg
Pompe disease, a disorder caused by a deficiency in the lysosomal enzyme acid alpha glucosidase, is frequently overlooked as a cause of floppy baby syndrome. The accurate diagnosis of floppy baby syndrome requires the sequential evaluation of medical causes (e.g., hypothyroidism, sepsis, malnutrition, malabsorption, congenital heart disease), neurologic etiologies (central [cerebral] and peripheral [lower motor unit]) and anatomic characteristics of the abnormality. Cardiomegaly on chest x-ray in a patient with floppy baby syndrome should alert the pediatrician to suspect Pompe disease...
May 2006: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Teerin Liewluck, Natte Raksadawan, Chanin Limwongse, Ichizo Nishino, Tumtip Sangruchi
Floppy infant syndrome (FIS) refers to a condition wherein an infant manifests generalized hypotonia since birth or in early life. It is heterogeneous and can be caused by various central nervous system disorders, neuromuscular diseases and genetic disorders. X-linked myotubular myopathy (XMTM) is a progressive congenital myopathy morphologically characterized by the presence of centrally placed nuclei in numerous muscle fibers without any other particular pathological abnormalities. Patients are frequently born with floppiness and respiratory distress...
January 2006: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Wilson Marques, Marcos R Freitas, Osvaldo J M Nascimento, Acary B Oliveira, Leandro Calia, Ailton Melo, Rita Lucena, Vera Rocha, Amilton A Barreira
The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations. In this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20% of the duplicated cases were sporadic. In 77% of the duplicated families the mutation event occurred in the hot spot area of the CMT1A-Rep region...
August 2005: Journal of Neurology
Gianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, Massimiliano Filosto, Egill Briem, Franco Carrara, Rossella Parini, Alessandro Simonati, René Santer, Massimo Zeviani
We studied nine infant patients with a combination of progressive neurological and hepatic failure. Eight children, including two sibling pairs and four singletons, were affected by Alpers' hepatopathic poliodystrophy. A ninth baby patient suffered of a severe floppy infant syndrome associated with liver failure. Analysis of POLG1, the gene encoding the catalytic subunit of mitochondrial DNA polymerase, revealed that all the patients carried different allelic mutations in this gene. POLG1 is a major disease gene in mitochondrial disorders...
April 2005: Brain: a Journal of Neurology
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