Floppy baby

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...

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...

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.

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...

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...

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...

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...

Autopsy is invaluable in identifying the causes of severe depression and very low Apgar score after birth and in assessing contributory conditions. Brain scans are increasingly used in the care of neonates who fail to respond to resuscitation at birth but their interpretation depends on the information gained from sound neuropathological studies. Asphyxia, both acute intrapartum asphyxia and chronic asphyxia, is an important cause of low Apgar scores. The gestational age and the nature of the asphyxial insult both have a profound influence on the ultimate pattern of injury...

The usual description of the Börjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse facial features, long ears, short stature, obesity, gynecomastia, tapering fingers, and shortened toes. Recently, mutations have been identified in the PHF6 gene in nine families with this syndrome. The clinical history and physical findings in the affected males reveal that the phenotype is milder and more variable than previously described and evolves with age...

A 2-month-old male baby was admitted to our hospital with episodic cyanosis and respiratory failure which required mechanical ventilation. He was found to have upper limb flexion rigidity and poor weight gain since one month old. Progressive muscle stiffness over the abdomen, chest wall, back and four limbs were also noted. He could not be weaned from the ventilator smoothly due to recurrent CO2 retention. Laboratory tests revealed a high serum creatine kinase level. Cytoplasmic body myopathy was confirmed by muscle biopsy...

A four-month-old infant, thought to suffer from cerebral palsy, presented with respiratory failure on the background of a gradually deteriorating general level of function. Whilst being ventilated in intensive care he was noted to have severe muscle weakness. A disorder of the neuromuscular junction was suspected and he was subsequently demonstrated to have a congenital myasthenic syndrome. Anticholinesterase therapy produced a dramatic recovery. The congenital myasthenic syndromes and the diagnosis of a "floppy baby" are briefly reviewed...

A case of cow's milk allergy related to type I and type III allergic reactions is reported. The patient is a one-month-old girl. She had watery diarrhea and abdominal distention soon after commencement of milk feeding two weeks after birth. She was cyanotic and floppy on admission. Intravenous complete hyperalimentation was tried to combat her diarrhea with good clinical effect. Then feeding with 605Z milk (enzyme digested cow's milk antigen, Meiji Milk Products Co., Ltd.) was started, and the diarrhea improved...

OBJECTIVE: to determine whether the three human lateral asymmetrical behaviours (maternal handedness, maternal preferred cradling side, neonatal preferred head turning) affected the development of a unilateral breast feeding problem (UBP). DESIGN: quasi-experimental comparing 32 postnatal women who reported a UBP with 28 who did not. SETTING: maternity unit in the south of England. PARTICIPANTS: 60 mother/baby pairs where it was the mother's first attempt at breast feeding, there were no structural abnormalities of the breasts or nipples, no obstetric abnormalities, and where the mother had had no more than 100 mg pethidine in labour...

The authors describe the case of a floppy baby with the typical features of early myoclonic encephalopathy, represented by erratic and partial myoclonus of early onset and electroencephalographical suppression-burst pattern. Muscle biopsy made it possible to recognize an important neurogenic pattern, suggesting a severe form of spinal muscular atrophy. The association of these two disorders has never been reported.

A case of congenital myopathy (fibre type disproportion) in a 14-year-old White girl is described. She was born a 'floppy baby' and her developmental milestones were delayed. A congenital muscle dystrophy was suspected clinically and a quadriceps biopsy examination revealed congenital fibre type disproportion.

A case of a 6-years-old boy with delayed motor milestones, hypotonia since birth (floppy baby), showing a partial improvement in the latter years is reported. On physical examination was found diffuse muscle atrophy, lordosis, generalized hyporeflexia and Gowers maneuver during standing procedure. Serum enzymes were normal and electromyography had potential with increased duration and excess of polyphasic potentials. Fresh-frozen muscle biopsy processed by histochemistry showed type 1 fiber predominance, absence of oxidative enzyme activity in the center of the fibers (central cores) and slight increased of the ATPase reaction in the cores area (structured cores?)...

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Six patients are described in whom a deficiency of cytochrome oxidase in muscle tissue was found. Four patients suffered from the syndrome of 'floppy babies' with profound hypotonia, muscle weakness and failure to thrive. They died within the first 6 months of life. Two patients suffered from Leigh's and Alpers' syndrome, respectively. In all patients lactate level was elevated in one or more body fluids, whereas in 4 patients a generalized amino-aciduria was found. With electronmicroscopy structurally abnormal mitochondria were seen in the muscle of 5 out of the 6 patients...

No abstract text is available yet for this article.