Vol 75, No 2 (2024)
Clinical vignette
Published online: 2024-03-05

open access

Page views 259
Article views/downloads 131
Get Citation

Connect on Social Media

Connect on Social Media

Multisystem inflammatory syndrome in children with Kawasaki disease-like manifestations in MMA

Miao Huang1, Xiyan Lu1, Yongmei Zeng2, Wujin Wang1, Jiyong Zhang2, Liting Wang2, Guoqing Dong1
Pubmed: 38497373
Endokrynol Pol 2024;75(2):230-231.

Abstract

Not required for Clinical Vignette.

Clinical vignette

Endokrynologia Polska

DOI: 10.5603/ep.98192

ISSN 0423–104X, e-ISSN 2299–8306

Volume/Tom 75; Number/Numer 2/2024

Submitted: 12.11.2023

Accepted: 22.12.2023

Early publication date: 05.03.2024

Multisystem inflammatory syndrome in children with Kawasaki disease-like manifestations in MMA

Miao Huang1Xiyan Lu1Yongmei Zeng2Wujin Wang1Jiyong Zhang2Liting Wang2Guoqing Dong1
1Department of Endocrinology and Metabolism, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, China
2Department of Gastroenterology, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, China

Guoqing Dong, Department of Endocrinology and Metabolism, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, China; e-mail: szdonggq@163.com

This article is available in open access under Creative Common Attribution-Non-Commercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially

Key words: organic acidaemias; multisystem inflammation syndrome; coronavirus disease

Methylmalonic acidaemia (MMA) is a disorder caused by pathogenic variants in the MUT gene (OMIM #609058) encoding methylmalonyl-CoA mutase. Although metabolic crises tend to occur during infections, cases presenting with multisystem inflammatory response syndrome and Kawasaki disease-like symptoms are rare.

The patient was born via vaginal delivery at 39 weeks and 3 days of gestation, with a birth weight of 2880 g. The diagnosis of methylmalonic academia (subtype mut0) was confirmed in the neonatal period. At the age of 3 years and 5 months, the patient was admitted to the hospital due to a 4-day fever and 1-day vomiting bout. The patient tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and Mycoplasma pneumoniae (MP) infection. The child had a high fever for 12 days, accompanied by cough, vomiting, diarrhea, shortness of breath, and sinus tachycardia. On the 10th day of fever, he exhibited drowsiness, irritability, and a positive Babinski sign. The numbers of white blood cells, neutrophils, lymphocytes, and platelets decreased. Metabolic acidosis, hyperlactatemia, hyperammonemia, impaired liver and kidney function, elevated triglycerides, electrolyte imbalances (low potassium, low calcium, low sodium, low chloride), and elevated D-dimer were observed (Tab. 1). A chest computed tomography scan revealed multiple patchy and indistinct shadows in both lungs. The electrocardiogram indicated a prolonged QT interval, and the left coronary artery was dilated (Fig. 1).Dexamethasone was administered at a dose of 0.1–0.15 mg/kg per day for 3 days.

Table 1. Demographic and clinical data of the patient

Age onset of the diagnosis

20 days

COVID-19 RNA

+

PEG

Yes

MP-IGM

+

Current age

3 years

WBC × 109/L

2.24

Genovariation

mut0

Lymphocyte × 109/L

0.23

Genetic locus

c.323G > A(p.R108H)

c.914T > C(p.I.305S)

Platelets × 1012/l

41

Highest degree of fever

40.6

CRP [mg/L]

20.9

Days of fever

12

PCT [ng/mL]

0.25

Cough

BE [mmol/L]

–9.6

Shortness

breath

HCO3- [mmol/L]

14.3

Vomiting

Lactic acid [mmol/L]

8.1

Diarrhoea

Blood ammonia [umol/L]

100

Tachycardia

ALT [U/L]

761

Neurological manifestations

AST [U/L]

348

Somnolence

Creatinine [umol/L]

53

Agitated

Urea [umol/L]

547.3

Babbitt sign+

Potassium [mmol/L]

2.55

Antibiotics

Linezolid, meropenem, cefuroxime, azithromycin

Serum calcium [mmol/L]

1.6

PICU therapy

√ (2 days)

Sodium [mmol/L]

128.4

Dexamethasone

0.1–0.15 mg/kg. Days for 3 days

Chlorine [mmol/L]

90.3

Inpatient days

12

D-dimer [ng/mL]

728

Huang-1.jpg
Figure 1. Echocardiography: The internal diameters of the left and right coronary artery origins are approximately 0.34 cm (z-score 2.6) and 0.27 cm (z-score 1.6), respectively. Indicating: An enlargement of the left coronary artery origin

Multisystem inflammatory syndrome in children (MIS-C) is characterized by common clinical features, including fever, mucocutaneous manifestations (rash, conjunctivitis, hand/foot swelling, red/cracked lips, and strawberry tongue), myocardial dysfunction, cardiac conduction abnormalities, shock, gastrointestinal symptoms, and lymphadenopathy. In this case, the patient presented with a recurrent high fever that lasted for 12 days, in addition to vomiting, diarrhea, mild coronary artery dilation detected on day 6 of fever via cardiac ultrasound,and prolonged QT interval on the electrocardiogram.This presentation aligns with the diagnostic criteria for MIS-C and fulfills the diagnostic criteria for Kawasaki disease.

MIS-C and Kawasaki disease are two distinct conditions that share common clinical features. MIS-C with Coronary Arterial Lesion (CAL) are rare. In contrast, CAL are more common in Kawasaki disease [1]. The patient continued to show coronary artery dilation during the fifth week of illness. Fever is a key feature of MIS-C, and affected children often exhibit higher body temperatures and longer duration of fever compared to children with other common pediatric illnesses [2]. This case also presented neurological manifestations. Headache and acute encephalopathy are primary neurological manifestations of MIS-C, particularly following Omicron infection in children.

Lymphopenia is a typical finding in MIS-C, which is rarely reported in Kawasaki disease. The severity of lymphopenia is directly related to the likelihood of MIS-C diagnosis. In this case, not only was there lymphopenia, but also leukopenia, eutropenia, and thrombocytopenia, possibly related to hematopoietic dysfunction caused by MMA.

SARS-CoV-2 infection can lead to two distinct inflammatory diseases in children: Kawasaki disease and MIS-C, with the best response to treatment being glucocorticoids and intravenous immunoglobulin, resulting in good outcomes and rare complications [3]. On this basis, the patient was administered low-dose glucocorticoids and intravenous immunoglobulin on the sixth day of fever; unfortunately, the recurrent fever persisted, indicating a suboptimal response to conventional treatment methods in MMA patients.

Percutaneous endoscopic gastrostomy(PEG) surgery is associated with minimal post-operative complications, is well-tolerated by pediatric patients, and is suitable for long-term tube feeding, simultaneously reducing negative psychological impacts on the patients [4]. The patient underwent PEG surgery at the age of 2, significantly reducing the frequency of metabolic disturbances. Additionally, during episodes of infection in the patient, the use of PEG can help shorten the hospital stay and facilitate the recovery process.

In summary, when treating patients with MMA who experience prolonged fever during concurrent infections, clinicians should remain watchful for the development of MIS-C and should also consider the possibility of Kawasaki disease.

Ethics statement

The study participant provided informed consent, and was approved by the Medical Ethics Committee of Shenzhen Maternal and Child Health Hospital (No. SFYLS2022075).

Conflict of interest

The authors declare that they have no competing interests.

Funding

This study was supported by Sanming Project of Medicine in Shenzhen (SZSM201812056).

References

  1. Rowley AH. Multisystem Inflammatory Syndrome in Children and Kawasaki Disease: Two Different Illnesses with Overlapping Clinical Features. J Pediatr. 2020; 224: 129–132, doi: 10.1016/j.jpeds.2020.06.057, indexed in Pubmed: 32585239.
  2. Carlin RF, Fischer AM, Pitkowsky Z, et al. Discriminating Multisystem Inflammatory Syndrome in Children Requiring Treatment from Common Febrile Conditions in Outpatient Settings. J Pediatr. 2021; 229: 26–32.e2, doi: 10.1016/j.jpeds.2020.10.013, indexed in Pubmed: 33065115.
  3. Cattalini M, Della Paolera S, Zunica F, et al. Rheumatology Study Group of the Italian Pediatric Society. Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey. Pediatr Rheumatol Online J. 2021; 19(1): 29, doi: 10.1186/s12969-021-00511-7, indexed in Pubmed: 33726806.
  4. Franco Neto JA, Liu PM, Queiroz TC, et al. Percutaneous Endoscopic Gastrostomy In Children And Adolescents: 15-Years’ Experience Of A Tertiary Center. Arq Gastroenterol. 2021; 58(3): 281–288, doi: 10.1590/S0004-2803.202100000-49, indexed in Pubmed: 34705960.