Hypophosphatasia mimicking hypoxic–ischaemic encephalopathy: early recognition and management

2020 ◽  
pp. archdischild-2019-317761
Author(s):  
Aled Picton ◽  
Ruchi Nadar ◽  
Alexandra Pelivan ◽  
Vidya Garikapati ◽  
Vrinda Saraff
Keyword(s):  
Respiratory Distress ◽  
Early Recognition ◽  
Severe Form ◽  
Blood Gas ◽  
Timely Initiation ◽  
Enzyme Replacement ◽  
Alp Activity ◽  
Life Saving ◽  
Bone Mineralisation ◽  
Teeth Development

BackgroundHypophosphatasia (HPP) is a rare inherited disorder affecting bone and teeth development. Perinatal HPP is the most severe form and associated with a high mortality. Features include respiratory distress, skeletal abnormalities and low alkaline phosphatase (ALP) activity.CaseA baby boy developed respiratory distress, hypotonia and seizures within an hour of birth. Blood gas showed mixed acidosis and abnormal base deficit. Hypoxic–ischaemic encephalopathy (HIE) was suspected and managed with therapeutic hypothermia. Subsequent investigations identified low ALP activity and abnormal bone mineralisation, leading to a diagnosis of HPP. On day 5 of life, enzyme replacement therapy (ERT) was commenced, its first use via direct NHS England funding since UK licensing in 2017.ConclusionsEarly hypotonia is an atypical presentation for perinatal HPP. Combined with acidosis and encephalopathy, it can clinically mimic HIE. Early recognition of biochemical and radiological features of HPP is essential for rapid diagnosis and timely initiation of life-saving ERT.

Management of perinatal HPP during critical illness/ECMO

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Neetu Krishnan ◽  
Nancy Dunbar
Keyword(s):  
Critical Illness ◽  
Respiratory Distress ◽  
Health Care Providers ◽  
Influenza A ◽  
Bone Mineralization ◽  
Close Monitoring ◽  
Care Providers ◽  
Enzyme Replacement ◽  
Life Saving ◽  
Chest X Ray

Abstract Objectives With the advent of asfotase alfa, the enzyme replacement therapy (ERT) approved for hypophosphatasia (HPP), health care providers need to navigate management of ERT during critical illness. Case presentation We present the case of a young girl, treated with ERT for severe perinatal HPP, who had cardiorespiratory arrest in the setting of influenza A. Her life-saving treatment involving extra corporeal membrane oxygenation (ECMO) required a two-week interruption of ERT leading to persistent hypercalcemia and hyperphosphatemia. A three year old female presented with respiratory distress and blood tinged secretions. She was influenza A positive with bilateral opacities on chest X-ray (CXR). Worsening respiratory distress and bradycardic arrest required intubation, CPR and venoarterial ECMO cannulation. She remained on ECMO for 10 days with anticoagulation restrictions requiring her thrice-weekly subcutaneous ERT to be held. Hypercalcemia (12.3 mg/dL) and hyperphosphatemia (7.6 mg/dL) developed two weeks after restarting ERT and resolved six weeks later. Conclusions We highlight that the obligatory cessation of ERT while on ECMO led to the loss of functional TNSALP with a profound decrease in bone mineralization leading to excess circulating calcium and phosphorus. In cases where it is necessary to interrupt ERT, we advise close monitoring of calcium and phosphorous levels.

scholarly journals Atypical presentation and manifestations in X-linked agammaglobulinemia patients with novel BTK mutations

2015 ◽  
Vol 2 (2) ◽  
pp. 75-83
Author(s):  
Amit Nahum ◽  
David Manson ◽  
Bo Ngan
Keyword(s):  
Bacterial Infections ◽  
Early Recognition ◽  
Stop Codon ◽  
Unexpected Finding ◽  
Missense Mutations ◽  
Protein Losing Enteropathy ◽  
Timely Initiation ◽  
Life Saving ◽  
Atypical Manifestations ◽  
Atypical Presentations

X-linked agammaglobulinemia (XLA) is a rare immunodeficiency caused by defects in the Bruton tyrosine kinase (BTK) gene, characterized by impaired B-cell development, reduced immunoglobulin production, and increased susceptibility to bacterial infections at an early age. Some XLA patients show atypical presentations, with most reports concentrating on the diagnosis at a relatively old age. They presented with infections at late age or with unusual pathogens; however, other atypical manifestations have only rarely been reported. Methods: Description of patients with XLA and novel mutations in BTK who presented with atypical manifestations or developed noninfectious complications. Results: Four patients presented unique manifestations unusual for XLA. The first with Granulomatous Dermatitis, the second with acute demyelinating encephalomyelitis, the third with “Crohn's disease like” localized protein-losing enteropathy, and the last patient with idiopathic thrombocytopenic purpura, which is an unexpected finding in a patient devoid of endogenous immunoglobulins. Mutations in BTK were found in all domains of the gene; 1 resulted in a stop codon and 3 were missense mutations. Conclusions: Early recognition of atypical presentations and manifestations of patients with XLA is crucial for timely initiation of life-saving therapy, which may include anti-bacterial and anti-inflammatory treatments in addition to immunoglobulin. Statement of novelty: In this study we present unique inflammatory and autoimmune phenomenons in XLA patients that were not described previously and are somewhat unexpected. These should alert the immunologist for the possibility of XLA diagnosis.

Spontaneous Pneumomediastinum: Uncommon Cause of Air Leak in Late Preterm Neonate

2021 ◽  
Vol 35 (2) ◽  
pp. 93-94
Author(s):  
Jyotsna Bhushan ◽  
Shagufta Iqbal ◽  
Abhishek Chopra
Keyword(s):  
Respiratory Distress ◽  
Conservative Management ◽  
Preterm Neonate ◽  
Late Preterm ◽  
Intravenous Fluids ◽  
X Rays ◽  
Blood Gas ◽  
X Ray ◽  
Spontaneous Pneumomediastinum ◽  
Chest X Ray

A clinical case report of spontaneous pneumomediastinum in a late-preterm neonate, chest x-ray showing classical “spinnaker sail sign,” which was managed conservatively and had excellent prognosis on conservative management. Respiratory distress in a preterm neonate is a common clinical finding. Common causes include respiratory distress syndrome, transient tachypnea of the newborn, pneumonia, and pneumothorax. Pneumomediastinum is not very common cause of respiratory distress and more so spontaneous pneumomediastinum. We report here a preterm neonate with spontaneous pneumomediastinum who had excellent clinical recovery with conservative management. A male baby was delivered to G3P1A1 mother at 34 + 6 weeks through caesarean section done due to abruptio placenta. Apgar scores were 8 and 9. Maternal antenatal history was uneventful and there were no risk factors for early onset sepsis. Baby had respiratory distress soon after birth with Silverman score being 2/10. Baby was started on oxygen (O2) by nasal prongs through blender 0.5 l/min, FiO2 25%, and intravenous fluids. Blood gas done was normal. Possibility of transient tachypnea of newborn or mild hyaline membrane disease was kept. Respiratory distress increased at 20 h of life (Silverman score: 5), urgent chest x-ray done revealed “spinnaker sign” suggestive of pneumomediastinum, so baby was shifted to O2 by hood with FiO2 being 70%. Blood gas repeated was normal. Baby was managed conservatively on intravenous fluids and O2 by hood. Baby was gradually weaned off from O2 over next 5 days. As respiratory distress decreased, baby was started on orogastric feed, which baby tolerated well and then was switched to oral feeds. Serial x-rays showed resolution of pneumomediastinum. Baby was discharged on day 7 of life in stable condition on breast feeds and room air.

Emergency cardiopulmonary bypass for impassable airway

2006 ◽  
Vol 120 (8) ◽  
pp. 687-690 ◽  
Author(s):  
I Tyagi ◽  
A Goyal ◽  
R Syal ◽  
S K Agarwal ◽  
P Tewari
Keyword(s):  
Cardiopulmonary Bypass ◽  
Airway Management ◽  
Respiratory Distress ◽  
Case Reports ◽  
Tracheal Lumen ◽  
Active Involvement ◽  
Safe Option ◽  
Life Saving ◽  
Lower Trachea ◽  
Medical Emergencies

Introduction: Some medical emergencies need compromised airway management as the first measure. Most of these cases are first seen by an ENT surgeon, whose proper evaluation and timely intervention can prove decisive. Knowledge of alternatives for airway management can prove life-saving, although these may require the active involvement of other specialities.Case reports: Two patients, a 27-year-old man and a 31-year-old woman, presented in respiratory distress with cyanosis. Each had a pedunculated mass in the lower trachea above the carina, with about 90 per cent tracheal lumen obstruction. They were managed successfully with femorofemoral cardiopulmonary bypass and restoration of airway.Conclusion: Femorofemoral cardiopulmonary bypass can be a relatively safe option which gains time for airway management in such conditions. Knowledge of this procedure among ENT surgeons can lead to timely intervention, in properly selected cases, which can save valuable time.

scholarly journals Acute respiratory distress syndrome in a case of diabetic ketoacidosis requiring ECMO support

2021 ◽  
Vol 2021 ◽  
Author(s):  
Milad Darrat ◽  
Brian Gilmartin ◽  
Carmel Kennedy ◽  
Diarmuid Smith
Keyword(s):  
Acute Respiratory Distress Syndrome ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Diabetic Ketoacidosis ◽  
Distress Syndrome ◽  
Early Recognition ◽  
Ecmo Support ◽  
List Type ◽  
Life Threatening ◽  
Life Threatening Complication

Summary Acute respiratory distress syndrome (ARDS) is a rare but life-threatening complication of diabetic ketoacidosis (DKA). We present the case of a young female, with no previous diagnosis of diabetes, presenting in DKA complicated by ARDS requiring extra corporeal membrane oxygenation (ECMO) ventilator support. This case report highlights the importance of early recognition of respiratory complications of severe DKA and their appropriate management. Learning points ARDS is a very rare but life-threatening complication in DKA. The incidence of ARDS remains unknown but less frequent than cerebral oedema in DKA. The mechanism of ARDS in DKA has multifactorial aetiology, including genetic predisposition. Early recognition and consideration of rare pulmonary complication of DKA can increase survival rate and provide very satisfactory outcomes. DKA patients who present with refractory ARDS can be successfully rescued by ECMO support.

scholarly journals P007: A comparative analysis of qSOFA, SIRS and Early Warning Scores Criteria to identify sepsis in the prehospital setting

CJEM ◽  
2017 ◽  
Vol 19 (S1) ◽  
pp. S79-S80 ◽  
Author(s):  
S. AlQahtani ◽  
P. Menzies ◽  
B. Bigham ◽  
M. Welsford
Keyword(s):  
Severe Sepsis ◽  
Screening Tool ◽  
Early Recognition ◽  
Capture Rate ◽  
Data Capture ◽  
Prehospital Setting ◽  
Life Saving ◽  
Data Points ◽  
And Performance ◽  
Definition Of

Introduction: Early recognition of sepsis is key in delivering timely life-saving interventions. The role of paramedics in recognition of these patients is understudied. It is not known if the usual prehospital information gathered is sufficient for severe sepsis recognition. We sought to: 1) evaluate the paramedic medical records (PMRs) of severe sepsis patients to describe epidemiologic characteristics; 2) determine which severe sepsis recognition and prediction scores are routinely captured by paramedics; and 3) determine how these scores perform in the prehospital setting. Methods: We performed a retrospective review of patients ≥18 years who met the definition of severe sepsis in one of two urban Emergency Departments (ED) and had arrived by ambulance over an eighteen-month period. PMRs were evaluated for demographic, physiologic and clinical variables. The information was entered into a database, which auto-filled a tool that determined SIRS criteria, shock index, prehospital critical illness score, NEWS, MEWS, HEWS, MEDS and qSOFA. Descriptive statistics were calculated. Results: We enrolled 298 eligible sepsis patients: male 50.3%, mean age 73 years, and mean prehospital transportation time 30 minutes. Hospital mortality was 37.5%. PMRs captured initial: respiratory rate 88.6%, heart rate 90%, systolic blood pressure 83.2%, oxygen saturation 59%, temperature 18.7%, and Glasgow Coma Scale 89%. Although complete MEWS and HEWS data capture rate was <17%, 98% and 68% patients met the cut-point defining “critically-unwell” (MEWS ≥3) and “trigger score” (HEWS ≥5), respectively. The qSOFA criteria were completely captured in 82% of patients; however, it was positive in only 36%. It performed similarly to SIRS, which was positive in only 34% of patients. The other scores were interim in having complete data captured and performance for sepsis recognition. Conclusion: Patients transported by ambulance with severe sepsis have high mortality. Despite the variable rate of data capture, PMRs include sufficient data points to recognize prehospital severe sepsis. A validated screening tool that can be applied by paramedics is still lacking. qSOFA does not appear to be sensitive enough to be used as a prehospital screening tool for deadly sepsis, however, MEWS or HEWS may be appropriate to evaluate in a large prospective study.

Sneezing, Wheezing, Having Trouble Breathing

2020 ◽  
pp. 179-188
Author(s):  
Renee Quarrie
Keyword(s):  
Emergency Department ◽  
Respiratory Distress ◽  
Emergency Management ◽  
Pediatric Patient ◽  
Childhood Asthma ◽  
Early Recognition ◽  
Current Treatment ◽  
Treatment Modalities ◽  
Key Points ◽  
Routine Chest

This chapter deals with one of the most common chronic diseases of childhood—asthma. It reviews the diagnosis of this disease and the acute emergency management of a pediatric patient who presents to the emergency department in respiratory distress from asthma. The current treatment modalities and indications for their use are discussed. Key points include that asthma diagnosis in the pediatric patient is largely clinical; early recognition and intervention are critical for successful management of asthma exacerbations; early administration of corticosteroids is important as it has been shown to reduce the rate of hospitalization; and routine chest radiographs do not play a part in the management of asthma.

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