Floppy newborn

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

No abstract text is available yet for this article.

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...

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...

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...

Intraoperative floppy iris syndrome (IFIS) occurring during cataract surgery in adults has been widely reported in association with tamsulosin and other α-1(a) adrenergic antagonists; however, only one case of pediatric IFIS has been previously reported and was associated with congenital cataract. We report a case of a 1-month old girl with IFIS associated with bilateral persistent pupillary membranes without cataracts and the use of preoperative topical phenylephrine and pilocarpine for IFIS prophylaxis.

We report the case of a child with cor triatriatum dexter masquerading as Ebstein's anomaly on transthoracic echocardiography. This was attributed to a floppy membrane arising from the right atrium, protruding into the tricuspid valve and pushing the leaflets downwards, giving an impression of Ebstein's anomaly. The importance of recognising this pitfall will prevent misdiagnosis of Ebstein's anomaly.

Hypotonia in infants in the first year of life is a common diagnostic and management challenge for pediatricians and neonatologists. Several published clinical studies have shown that a substantial proportion of cases are accounted for by genetic disorders. Rapid advances in biotechnology, bioinformatics, and molecular genetic testing have made it possible to offer specific genetic diagnoses in a timely manner. The value of clinical examination in the localization of hypotonia within the nervous system as the first step towards a diagnosis cannot be overemphasized...

Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex III deficiency and underlie several fatal, neonatal mitochondrial diseases. Here we describe a 20-year-old Kenyan woman who initially presented as a floppy infant but whose condition progressed during childhood and adolescence with increasing muscle weakness, focal motor seizures and optic atrophy. Muscle biopsy demonstrated complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies...