scholarly journals MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Xinyi Chin ◽  
Aravind Venkatesh Sreedharan ◽  
Ene Choo Tan ◽  
Heming Wei ◽  
Jyn Ling Kuan ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
De Novo ◽  
Early Recognition ◽  
Failure To Thrive ◽  
High Dose ◽  
Severe Thrombocytopenia ◽  
Multisystem Involvement ◽  
Life Threatening ◽  
Recurrent Intussusception ◽  
First Year Of Life

IntroductionPrimary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently described syndrome with PAI and multisystem involvement.Case PresentationA preterm female neonate presenting with PAI and persistent severe thrombocytopenia was diagnosed to have MIRAGE syndrome due to a de novo pathogenic variant c.3406G>C (p. Glu1136Gln) in the SAMD9 gene. In the first year of life, she had recurrent respiratory and gastrointestinal infection causing failure to thrive. At 17 months, she suffered recurrent intussusception requiring treatment with parenteral nutrition and high-dose steroids. Subsequently, she established oral feeds with hydrolysed formula and demonstrated good weight gain.ConclusionIn neonates presenting with PAI and associated multisystem involvement, a thoughtful approach and genetic testing is valuable in discerning an etiological diagnosis. This case of MIRAGE adds to the spectrum of reported cases and is the first to report on recurrent intussusception and its management with high-dose steroids.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

Heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A1) can cause transient adrenal insufficiency and life-threatening failure to thrive

HORMONES ◽  
2018 ◽  
Vol 17 (3) ◽  
pp. 419-421 ◽  
Author(s):  
Dimitrios T. Papadimitriou ◽  
Christina Bothou ◽  
Diagoras Zarganis ◽  
Maria Karantza ◽  
Anastasios Papadimitriou
Keyword(s):  
Adrenal Insufficiency ◽  
Failure To Thrive ◽  
Side Chain ◽  
Enzyme Gene ◽  
Side Chain Cleavage ◽  
Chain Cleavage ◽  
Cleavage Enzyme ◽  
Life Threatening

Infusion of intrathecal baclofen for acute withdrawal

2007 ◽  
Vol 107 (4) ◽  
pp. 878-880 ◽  
Author(s):  
Bradley S. Duhon ◽  
Joel D. Macdonald
Keyword(s):  
Early Recognition ◽  
Intrathecal Baclofen ◽  
Current Therapy ◽  
High Dose ◽  
Pump System ◽  
Lumbar Drain ◽  
Standard Patient ◽  
Baclofen Withdrawal ◽  
Life Threatening ◽  
Threatening Situation

✓ Acute baclofen withdrawal syndrome is a life-threatening situation that demands early recognition and urgent treatment. The current therapy of choice for this syndrome is administration of intravenous benzodiazepines, propofol, and chemical paralytic drugs until the intrathecal system can be restored. The authors present a novel technique for administering baclofen intrathecally using a lumbar drain and a standard patient-controlled analgesia pump (in continuous infusion mode). In one case, this method was used to wean the patient from high-dose intrathecal baclofen treatment. In a second case, this method was used as a temporizing measure until the indwelling pump system could be repaired. In both cases, the patients recovered to their neurological baseline level, and lasting consequences of serious withdrawal were avoided.

Severe case of Lemierre syndrome with multiple neurological and ophthalmological sequelae

2021 ◽  
Vol 14 (8) ◽  
pp. e244669
Author(s):  
Alice Liu ◽  
Jemma Taylor ◽  
Monica Slavin ◽  
Steven Tong
Keyword(s):  
Early Recognition ◽  
Surgical Excision ◽  
Severe Case ◽  
Intracranial Extension ◽  
High Dose ◽  
Lemierre Syndrome ◽  
Threatening Condition ◽  
Life Threatening ◽  
The Right ◽  
Discharge From Hospital

A 56-year-old man was admitted to intensive care with septic shock, multiple facial abscesses and thrombophlebitis of the right internal jugular vein with extensive intracranial extension. A diagnosis of Lemierre syndrome due to Streptococcus anginosus was made and treatment initiated with high-dose ceftriaxone and metronidazole, along with surgical debridement. His admission was complicated by raised intraocular pressures and visual loss requiring bilateral canthotomies. Despite therapeutic anticoagulation with enoxaparin, he also developed an ischaemic basal ganglia infarct. After a prolonged and complex hospital stay, the patient was later readmitted with an intracerebral abscess requiring surgical excision and a second course of antibiotics. This case highlights the value of early recognition of this rare but potentially life-threatening condition, considerations around anticoagulation and antibiotic decisions, and the importance of close multidisciplinary follow-up even after discharge from hospital.

scholarly journals Fulminant myocarditis: use of echocardiography from diagnosis to extracorporeal membrane oxygenation

2020 ◽  
Vol 7 (3) ◽  
pp. K21-K26
Author(s):  
Na Hyun Park ◽  
Hazem Lashin ◽  
Rosalba Spiritoso
Keyword(s):  
Extracorporeal Membrane Oxygenation ◽  
Early Recognition ◽  
Heart Function ◽  
Thrombus Formation ◽  
Fulminant Myocarditis ◽  
High Dose ◽  
List Type ◽  
Membrane Oxygenation ◽  
Threatening Condition ◽  
Life Threatening

Summary Fulminant myocarditis can present with life-threatening arrhythmias and cardiogenic shock due to ventricular failure. The diagnosis of myocarditis usually requires histological and immunological information, as its aetiology may be infectious (viral or non-viral), autoimmune or drug related. The treatment of fulminant myocarditis depends on the underlying cause but usually includes high dose systemic steroids as well as physiological support. Veno-arterial extracorporeal membrane oxygenation (V-A ECMO) can be used to support patients as a bridge to recovery by supporting biventricular function and decompressing the heart. V-A ECMO carries risks and complications of its own such as thrombus formation or bleeding. Different diagnostic modalities, such as transthoracic echocardiogram (TTE) and transoesophageal echocardiogram (TOE), are central to the monitoring of progression of disease and recovery of heart function. This case highlights the importance of early recognition and early support with V-A ECMO in fulminant myocarditis, as well as the role of repeated echocardiography when weaning from physiological support. Learning points: Myocarditis is a life-threatening condition and early recognition of cardiac failure can be assisted with a bedside echocardiogram. Extracorporeal membrane oxygenation is used as a bridging method of treatment for patients with cardiogenic failure in myocarditis but has its own risks related to anticoagulation and the procedure itself. There are currently no standardised guidelines of when to wean a patient off extracorporeal membrane oxygenation, but echocardiography acts as an important guide to detect complications as well as cardiac recovery.

scholarly journals Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia

2021 ◽  
Vol 12 ◽  
Author(s):  
Jakob Höppner ◽  
Sabrina Lais ◽  
Claudia Roll ◽  
Andreas Wegener-Panzer ◽  
Dagmar Wieczorek ◽  
...  
Keyword(s):  
De Novo ◽  
Failure To Thrive ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Perinatal Complications ◽  
Calcium Sensing Receptor ◽  
Disease Manifestation ◽  
Benign Condition ◽  
Calcium Sensing ◽  
Life Threatening ◽  
Metaphyseal Fractures

Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (CaSR). The condition is often un- or misdiagnosed but may have a prevalence as high as 74 in 100.000. Here, the neonatal courses of two brothers with paternally inherited FHH (CaSR c.554G>A; p.(Arg185Gln)) are described. The older brother was born preterm at 25 weeks gestation with hypercalcemia and hyperparathyroidism. The younger brother, born full-term, had severe hyperparathyroidism, muscular hypotonia, thrombocytopenia, failure to thrive and multiple metaphyseal fractures. Treatment with cinacalcet was initiated, which resulted in subsequent reduction of PTH levels and prompt clinical improvement. While it is known that homozygous mutations in CaSR may lead to life-threatening forms of neonatal severe hyperparathyroidism (NSHPT), few reports have described a severe clinical course in neonates with FHH due to heterozygous mutations. However, based on the pathophysiological framework, in de novo or paternally transmitted FHH the differing calcium needs of mother and fetus can be expected to induce fetal hyperparathyroidism and may result in severe perinatal complications as described in this report. In summary, FHH is a mostly benign condition, but transient neonatal hyperparathyroidism may occur in affected neonates if the mutation is paternally inherited. If severe, the condition can be treated successfully with cinacalcet. Patients with FHH should be informed about the risk of neonatal disease manifestation in order to monitor pregnancies and neonates.

Rare case of life-threatening thrombocytopenia occurring after radiotherapy in a patient treated with immune checkpoint inhibitor

2020 ◽  
Vol 13 (6) ◽  
pp. e235249 ◽  
Author(s):  
Aurore Hendrix ◽  
Anne-Emmanuella Yeo ◽  
Sarah Lejeune ◽  
Emmanuel Seront
Keyword(s):  
Renal Cancer ◽  
Immune Checkpoint ◽  
Checkpoint Inhibitors ◽  
Potential Interaction ◽  
High Dose ◽  
Severe Thrombocytopenia ◽  
Metastatic Renal Cancer ◽  
Advanced Renal Cancer ◽  
Endocrine Organs ◽  
Life Threatening

Immune checkpoint inhibitors (ICIs) improve significantly outcome of patients with advanced renal cancer. Although immune-related adverse events involve frequently skin, digestive tract, lung, liver and endocrine organs, haematological toxicities are rare. We describe the case of a patient with metastatic renal cancer who was treated with nivolumab. Eight courses of nivolumab were administered without any toxicity; brain metastases were then diagnosed and treated with stereotactic radiotherapy. As the extra-cranial disease was stable, the ninth course of nivolumab was administered 5 days after the end of radiotherapy. One week later, he presented with rectal and nasal bleeding in a context of severe thrombocytopenia (1000/mm3). High dose of steroids and intravenous immunoglobulin reversed slowly the thrombocytopenia. This case highlights the possibility of life-threatening thrombocytopenia with ICIs. Interestingly, the close time relation with radiotherapy highlights a potential interaction, warranting a close follow-up of patients in this situation.

Addison-Krise – Risiko erkennen und rasch behandeln

2018 ◽  
Vol 143 (06) ◽  
pp. 392-396 ◽  
Author(s):  
Gesine Meyer ◽  
Klaus Badenhoop
Keyword(s):  
Continuous Infusion ◽  
Adrenal Insufficiency ◽  
Joint Pain ◽  
Early Recognition ◽  
Educational Programs ◽  
Adrenal Crisis ◽  
Stress Symptoms ◽  
Risk Of Mortality ◽  
Life Threatening ◽  
Life Threatening Complication

AbstractAn adrenal crisis (Addisonian crisis) is an acute life-threatening complication of adrenal insufficiency. It occurs when hydrocortisone demand is not met by supplementation in the context of an infection – often gastrointestinal, fever, trauma, acute psychological or physical stress. Symptoms of weakness, nausea, muscle/joint pain and drowsiness may develop out of robust health within few hours. If overlooked, treated too late, with insufficient dose or route of application, there exists a considerable risk of mortality. Treatment consists of immediate parenteral hydrocortisone (100 mg bolus) and subsequent continuous infusion until the underlying precipitating cause is cured and/or when regular supplementation can be continued. Physicians and nurses must not underestimate the condition, since diagnosis and treatment must not be delayed. Patients, relatives and spouses need to be trained in prevention and early recognition through educational programs and emergency cards.

scholarly journals Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

2019 ◽  
Author(s):  
J. O. Johnson ◽  
R. Chia ◽  
D. E. Miller ◽  
R. Li ◽  
Y. Abramzon ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
De Novo ◽  
Failure To Thrive ◽  
High Dose ◽  
Motor Disorder ◽  
Serine Palmitoyltransferase ◽  
De Novo Mutations ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Key Enzyme ◽  
Lateral Sclerosis

AbstractJuvenile amyotrophic lateral sclerosis (ALS) is a rare form of childhood motor disorder with a heterogeneous clinical presentation. The underlying causes of this condition are poorly understood, hindering the development of effective therapies. In a whole-exome sequencing trio-family study of three unrelated juvenile patients diagnosed with ALS and failure to thrive, we identified de-novo mutations in SPTLC1 (p.Ala20Ser in two patients and p.Ser331Tyr) not present in their healthy parents or siblings. SPTLC1 encodes a subunit of the serine palmitoyltransferase complex, a key enzyme in sphingolipid biosynthesis. Mutations in this gene are known to cause hereditary sensory autonomic neuropathy, type 1A, with a characteristic increase in plasma levels of neurotoxic deoxymethyl-sphinganine. We found an increase of this metabolite in one of our patients carrying the p.Ala20Ser mutation. Treatment of one of the patients with high dose, oral L-serine led to an increase in body weight, suggesting that serine supplementation may be beneficial among patients carrying mutations in this gene.

scholarly journals Neonatal Alloimmune Thrombocytopenia Detected After Traumatic Delivery: Case Report

2021 ◽  
Author(s):  
Gökhan KAya ◽  
Sema Tanrıverdi
Keyword(s):  
Human Platelet ◽  
Clinical Manifestations ◽  
Early Period ◽  
Ivig Therapy ◽  
High Dose ◽  
Severe Bleeding ◽  
Severe Thrombocytopenia ◽  
Platelet Suspension ◽  
Life Threatening ◽  
Alloimmune Thrombocytopenia

Neonatal Alloimmune Thrombocytopenia (NAIT), a complication of maternal alloimmunization against fetal platelets, is the result of immune destruction of platelets due to maternal antibodies in the early period. The cause of thrombocytopenia here is by antibodies developed against human platelet antigens frequently inherited from the mother. The clinical manifestations of NAIT extend from asymptomatic to severe bleeding. Platelet suspension can be used in the setting of severe thrombocytopenia or life-threatening bleeding. High-dose intravenous immunoglobulin (IVIG) therapy is another treatment option. A case who had no clinical finding except diffuse ecchymoses after traumatic delivery, but was considered to have NAIT due to severe thrombocytopenia and was successfully treated with platelet suspension and IVIG is presented.

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