scholarly journals Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant

2021 ◽  
Vol 11 (02) ◽  
pp. e91-e94
Author(s):  
Gloria Akuamoah-Boateng ◽  
Raymond C. Stetson ◽  
Bethany D. Kaemingk ◽  
David A. Bieber ◽  
Jane E. Brumbaugh
Keyword(s):  
Respiratory Failure ◽  
Respiratory Function ◽  
Neonatal Period ◽  
Clinical Course ◽  
Male Infant ◽  
Nemaline Myopathy ◽  
Preterm Newborn ◽  
Congenital Myopathies ◽  
Newborn Period ◽  
Whole Exome

AbstractCongenital 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 326/7 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. Whole exome sequencing identified an ACTA1 gene mutation leading to the presumed diagnosis of nemaline myopathy. This case highlights the need to include congenital myopathies in the differential for a preterm newborn with hypotonia and respiratory failure.

scholarly journals Fatal Nemaline Myopathy in Infancy

1984 ◽  
Vol 11 (2) ◽  
pp. 305-309 ◽  
Author(s):  
Joseph B. McMenamin ◽  
Bernadette Curry ◽  
Glen P. Taylor ◽  
Laurence E. Becker ◽  
E. Gordon Murphy
Keyword(s):  
Respiratory Failure ◽  
Peripheral Nerves ◽  
Neonatal Period ◽  
Nemaline Myopathy ◽  
Clinical Findings ◽  
Neural Basis ◽  
Limb Muscles ◽  
The Central Nervous System ◽  
Severe Hypotonia ◽  
Clinical Stability

ABSTRACT:The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

scholarly journals Acute flaccid paralysis in a neonate: tick bite a differential?

2021 ◽  
Vol 2021 (7) ◽  
Author(s):  
Vinson James ◽  
Jincy Rajan ◽  
Shincy Rajan
Keyword(s):  
Respiratory Failure ◽  
Clinical Presentation ◽  
Acute Flaccid Paralysis ◽  
Neonatal Period ◽  
Early Recognition ◽  
Complete Recovery ◽  
Tick Bite ◽  
Rapid Recovery ◽  
Newborn Period ◽  
Tick Paralysis

ABSTRACT Tick paralysis is an uncommon, noninfectious, neurologic syndrome characterized by acute ataxia and ascending paralysis mostly seen in children. Early recognition and prompt management with tick removal helps in complete recovery. If untreated, ascending paralysis can lead to respiratory failure and death in 10% of the cases. Tick paralysis is usually considered as a differential in all cases of acute ataxia and generalized weakness in children and adults but seldom in neonates due to its rarity and differences in clinical presentation in the newborn period. In neonates, tick paralysis may present only as generalized weakness and lethargy with poor feeding. Even though tick paralysis is common in children <10 years of age, it has never been reported in a neonate. We report a case of tick bite paralysis in a baby who presented in the neonatal period, and identification of the tick and its removal that helped in rapid recovery.

scholarly journals Severe tricuspid regurgitation 14 years after diagnosis of “transient neonatal tricuspid regurgitation”

Heart ◽  
2001 ◽  
Vol 86 (1) ◽  
pp. 88-90
Author(s):  
D Boshoff ◽  
L Mertens ◽  
M Gewillig
Keyword(s):  
Tricuspid Regurgitation ◽  
Neonatal Period ◽  
Clinical Course ◽  
Subsequent Evolution ◽  
Severe Tricuspid Regurgitation ◽  
Echocardiographic Examination ◽  
Long Term Follow Up ◽  
Transient Tricuspid Regurgitation

A 14 year old girl presented with severe tricuspid regurgitation after she was diagnosed with “transient tricuspid regurgitation of the newborn”. In the neonatal period she had presented with severe tricuspid regurgitation without an obvious underlying anatomical cause. This spontaneously regressed during the first months of life. She was dismissed from follow up at the age of 5 years after complete normalisation of the clinical and echocardiographic examination. The subsequent evolution and management of the patient, as well as the possible pathogenesis responsible for the unusual clinical course, is discussed. This case stresses the importance of long term follow up of patients with transient tricuspid regurgitation.

Nemaline Myopathy as a Cause of Sleep Hypoventilation

PEDIATRICS ◽  
1986 ◽  
Vol 77 (3) ◽  
pp. 390-395
Author(s):  
Ch. Maayan ◽  
C. Springer ◽  
Y. Armon ◽  
E. Bar-Yishay ◽  
V. Shapira ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Respiratory Failure ◽  
Ventilatory Response ◽  
Nemaline Myopathy ◽  
Cor Pulmonale ◽  
Systemic Hypertension ◽  
Older Patient ◽  
And Function ◽  
Ventilatory Response To Co2

Two siblings, a 14.5-year-old boy and his 11.5-year-old sister, with congenital nemaline myopathy presented with severe respiratory failure and, in the case of the older patient, with cor pulmonale and systemic hypertension. The children were treated initially by continuous mechanical ventilation, but after a few weeks they only required ventilation at night. At the start of treatment, both were found to have a decreased ventilatory response to CO2 which apparently improved during 4 to 5 years of follow-up treatment. It has not been possible to wean them from nocturnal mechanical ventilation, but during the daytime they attend school and function almost normally. It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for normal control of breathing.

Salivary Immunoglobulins: Absence of γA in Saliva Following Exchange Transfusions in Neonatal Period

PEDIATRICS ◽  
1967 ◽  
Vol 40 (3) ◽  
pp. 452-454
Author(s):  
JOHN C. SELNER ◽  
DEBORAH A. MERRILL ◽  
HENRY N. CLAMAN
Keyword(s):  
Neonatal Period ◽  
Newborn Infants ◽  
Newborn Period ◽  
Data Support ◽  
Serial Samples

The possible transport of serum γA into saliva was studied in the newborn period. Five infants with erythroblastosis fetalis and undetectable γA in serum or saliva had two-volume exchange transfusions. Serum γA rose to "adult" levels after transfusion, but no detectable γA appeared in serial samples of saliva, as measured by electroimmunodiffusion (EID). The data support the thesis that salivary γA is not transported from the serum and tends to confirm the findings of Haworth and Dilling who previously described the absence of salivary γA following exchange transfusions in newborn infants.

ACTIVITY OF GLUTAMIC-OXALOACETIC TRANSAMINASE IN THE SERUM IN THE NEONATAL PERIOD

PEDIATRICS ◽  
1957 ◽  
Vol 20 (4) ◽  
pp. 584-589
Author(s):  
Simon Kove ◽  
Stanley Goldstein ◽  
Felix Wróblewski
Keyword(s):  
Neonatal Period ◽  
Newborn Infants ◽  
Normal Range ◽  
Glutamic Oxaloacetic Transaminase ◽  
Newborn Period ◽  
Method Of Determination ◽  
Normal Term ◽  
Pathologic State ◽  
Normal Adults

The activity of glutamic oxaloacetic transaminase (GOT) in the serum was determined by the spectrophotometric method in 63 normal term newborn infants, varying from birth to 11 days of age. The normal range of activity in the newborn period varied from 13 to 105 units (with the exception of one infant in whom the level was 160 units). This is a considerably wider range than that of 5 to 45 units found in normal adults. Allowing for an error of about ±10% inherent in the method of determination of GOT, activity as great as approximately 120 units, which in adults would be indicative of some pathologic state, must be considered physiologic in the newborn infant. The activity of GOT was not related to the age of the infant within the neonatal period studied, and varied widely in different infants for each day of age, without any distinctive pattern. Variations of the activity of GOT in specimens of cord blood studied ranged below 59 units, which was lower than for any other day of the neonatal period adequately investigated. No infants were studied repeatedly. No relation was found between the concentration of bilirubin and the activity of GOT in the serum.

scholarly journals Generalized tetanus in an 11-year-old boy: A case report

2021 ◽  
Vol 11 (1) ◽  
pp. 69-75
Author(s):  
Artem A. Kozlov ◽  
Irina V. Shevchuk ◽  
Aleksei E. Zavialov ◽  
Anatoly N. Emelyanov
Keyword(s):  
Case Report ◽  
Respiratory Failure ◽  
Gastrointestinal Tract ◽  
Pain Relief ◽  
Antibiotic Therapy ◽  
Clinical Course ◽  
Treatment Strategies ◽  
Adequate Pain Relief ◽  
Choice Of Treatment ◽  
Severe Tetanus

The study presents a case report of a generalized form of severe tetanus in an unvaccinated 11-year-old child. Pain and convulsive syndromes, respiratory failure, and damage to the gastrointestinal tract prevailed in the acute period. Antibiotic therapy, anti-tetanus serum, adequate pain relief, and anticonvulsant therapy were the leading treatments of the child. Moreover, the paper discusses literature data on the options for the clinical course and choice of treatment strategies. The lack of planned vaccination in children is unsafe.

Congenital Adrenal Hyperplasia Associated with Polycythemia

PEDIATRICS ◽  
1960 ◽  
Vol 26 (3) ◽  
pp. 500-502
Author(s):  
Alfred F. Michael ◽  
Arnold P. Gold
Keyword(s):  
Urinary Excretion ◽  
Congenital Adrenal Hyperplasia ◽  
Male Infant ◽  
Adrenal Hyperplasia ◽  
Newborn Period

We reported (Pediatrics, 23:727, 1959) a male infant with congenital adrenal hyperplasia complicated by marked polycythemia during the newborn period. This child died at 29 months of age. The purpose of this communication is to relate his further course and the necropsy findings. He was admitted to the hospital at 1 day of age to be investigated for adrenal hyperplasia, as his sibling was known to have this disease. The diagnosis was confirmed by finding an increased 24-hour urinary excretion of 17-ketosteroids.

Failure of Strychnine Treatment during the Neonatal Period in Three Finnish Children with Nonketotic Hyperglycinemia

PEDIATRICS ◽  
1980 ◽  
Vol 65 (6) ◽  
pp. 1166-1169
Author(s):  
Lennart von Wendt ◽  
Seppo Similä ◽  
Anna-Liisa Saukkonen ◽  
Maila Koivisto
Keyword(s):  
Sodium Benzoate ◽  
Exchange Transfusion ◽  
Clinical Effect ◽  
Neonatal Period ◽  
Clinical Course ◽  
Severe Form ◽  
Neonatal Onset ◽  
Glycine Level ◽  
Nonketotic Hyperglycinemia ◽  
Severe Type

Three Finnish infants with a severe neonatal-onset-type of nonketotic hyperglycinemia were treated with strychnine nitrate in a daily dosage of 0.2 to 0.9 mg/kg, given orally in four doses. In order to lower the plasma and CSF-glycine concentrations concomitant exchange transfusions (200 to 300 ml/kg of heparinized blood) were carried out in two of these infants. Although the strychnine therapy was started at ages 15, 40, and 62 hours, the strychnine produced no clinical effect, and the exchange transfusion caused only a transient decrease in the plasma glycine level. Despite treatment, the clinical course was the same as in the majority of children with the severe form of the disease—all died within the first ten days of life. Impressive effects of strychnine treatment initiated in two infants at ages 5 and 6½ months, and given in addition to sodium benzoate and anticonvulsants, have been reported. These cases, however, probably represent a less severe type of nonketotic hyperglycinemia. Nevertheless, the therapeutic failure in the present cases probably indicates that strychnine treatment does not solve the therapeutic problems of severe forms of NKH.

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