Floppy newborn

Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones...

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 ( FGFR3 ) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia...

A 6-hour newborn boy presented with bilateral overriding of the upper eyelids during sleep and spontaneous eyelid eversion. Physical examination revealed canthal tendon laxity and hyperemia of the tarsal conjunctiva of both eyes. A diagnosis of congenital eyelid imbrication syndrome (CEIS) was established. The cornea and remaining adnexal structures were healthy; therefore, conservative management with lubricant ointment was initiated. On day 4, complete resolution of upper eyelid overriding and absence of spontaneous eversion was observed...

We present a novel approach of ventilation, using high-frequency oscillation ventilation (HFOV), during neonatal cardiopulmonary resuscitation (CPR) of a very preterm neonate. This case report highlights the importance of adequate lung inflation, which is a current topic, with neonatal resuscitation guidelines recommending a coordinated 3:1 compression:ventilation ratio during CPR. Our patient, a female infant born at 30 weeks gestational age, weighing 970 g, appeared floppy and apneic following birth in the amniotic sac...

The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs. The aim of this study was to use the Hammersmith Neonatal Neurological Examination (HNNE) and a module specifically designed for floppy infants to assess the possible variability of neurological findings in infants identified through neonatal screening. The infants included in this study were identified as part of a pilot study exploring neonatal screening in two Italian regions...

UNLABELLED: Our aim was to develop a new module for assessing the floppy infant, to describe the application of the module in a cohort of low-risk newborns and piloting the module in a cohort of floppy infants. The module was applied to a cohort of 143 low-risk newborns and piloted in in a cohort of 24 floppy infants. The new add-on module includes a neurological section and provides a section for recording information obtained by physical examination and antenatal history. For each item, column 1 reports abnormal findings, column 3 normal findings, and column 2 intermediate signs to be followed...

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A newborn male with cat eye syndrome presented with progressively worsening bilateral upper eyelid imbrication, floppy eyelids, and ptosis. Despite conservative management, he remained unable to open his eyelids. Surgical correction was planned to prevent bilateral sensory deprivation amblyopia and was delayed until 5 months of age due to systemic health concerns. Bilateral full-thickness wedge excision and frontalis suspension with silicone rods in a double rhomboid fashion was performed. Postoperatively, the patient demonstrated spontaneous eyelid opening, resolution of spastic eversion of the upper eyelids, and adequate eyelid closure...

Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions. We present the case of a preterm male infant born at 32 6/7 weeks' gestation, who was profoundly hypotonic and required intubation at birth. His clinical course progressed from acute to chronic respiratory failure with mechanical ventilation dependence. He developed bilateral chylous pleural effusions during the newborn period...

Infantile haemangioma represents a congenital vascular anomaly commonly observed in the head and neck region. Such an occurrence over the postcricoid region, however, is rather unusual. Herein, the authors report a case of a synchronous postcricoid haemangioma in a 7-week-old newborn diagnosed with severe laryngomalacia. In addition to the floppy redundant arytenoid mucosa, flexible laryngoscopy revealed a lobulated bluish mass at the postcricoid. The lesion was hyperintense on T1-weighted sequence and was enhanced with contrast, supporting the diagnosis of a haemangioma...

BACKGROUND: Ehlers-Danlos syndrome (EDS) represents a group of connective tissue disorders characterized by the fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and internal organ involvement. The clinical spectrum is highly variable in terms of clinical features, complications, severity, biochemical characteristics and genes mutations. The kyphoscoliotic type EDS (EDS VIA) is a rare variant of the disease, with an incidence of 1:100...

Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen accumulation in neurons and striated muscle. In the decade since availability of first-generation enzyme replacement therapy (ERT) a better understanding of the clinical spectrum of disease has emerged. The most severe form of early onset disease is typically identified with symptoms in the first year of life, known as infantile-onset Pompe disease (IOPD)...

OBJECTIVE: Methamphetamine (MA) has become one of the most commonly used illegal drugs during pregnancy. We sought to determine how MA abuse modifies pregnancy outcomes and the health of the newborn infants. Patients 102 newborns from mothers with antenatal MA consumption were admitted to the University Hospital Leipzig from 2004-2015. METHODS: The effects of MA abuse on pregnancy outcomes and neonates were researched in a retrospective controlled study. We analysed the date of pregnancy detection, number of antenatal preventive examinations, body measurements of the neonates, duration of hospitalization, rate of preterm infants, congenital malformations and symptoms of neonatal abstinence syndrome...

David is a 22-month-old boy who is new to your practice. He recently moved from a rural area in the Midwest. His father is in the United States Air Force, and his mother works as a full-time homemaker. Their household includes 5 older siblings. The family moves every year because of the father's Air Force placement.David was born full-term in Virginia, with no reported pregnancy complications and no alcohol, tobacco, or drug exposure. He was delivered vaginally, with Apgar scores of 7 and 9, respectively and no respiratory issues...

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)...

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...

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...

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...

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...

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...