A case of interstitial lung and liver disease caused by MARS1 gene mutation / 中国当代儿科杂志

The patient is a female infant, 4 months and 9 days old, who was admitted to the hospital due to recurrent fever, cough, and hepatomegaly for over a month. The patient was a healthy full-term infant with a normal birth history. At 2 months and 22 days after birth, she developed recurrent fever, cough, and respiratory distress. Chest imaging revealed diffuse bilateral lung lesions, and fiberoptic bronchoscopy showed interstitial changes in both lungs. These suggested the presence of interstitial lung disease. The patient also presented with hepatomegaly, anemia, hyperlipidemia, hypothyroidism, and malnutrition. Genetic testing indicated compound heterozygous variations in the MARS1 gene. This mutation can cause interstitial lung and liver disease, which is a severe rare disorder that typically manifests in infancy or early childhood. It is inherited in an autosomal recessive manner and characterized by early-onset respiratory insufficiency and liver disease in infants or young children. Since its first reported case in 2013, as of June 2023, only 38 related cases have been reported worldwide. This article reports the multidisciplinary diagnosis and treatment of interstitial lung and liver disease in an infant caused by MARS1 gene mutation.

Sarcoidosis / Sacoidosis

Introducción: La sarcoidosis es un desorden multisistémico de causa desconocida. El curso de la enfermedad es variable, puede ser asintomático con resolución espontánea o progresar con fallo orgánico llegando incluso a la muerte. Objetivo: Describir el protocolo diagnóstico ante la sospecha de sarcoidosis. Presentación del caso: Se presenta un caso clínico con varios síntomas y signos aparentemente no relacionados entre sí, en el que se implementa un algoritmo descrito en la literatura foránea. Conclusiones: La interdisciplinariedad fue necesaria para el correcto manejo de este caso, en la cual los internistas como moderadores fueron fundamentales pues permitió una visión integral del enfermo(AU)

Introduction: Sarcoidosis is a multisystemic disorder of unknown cause. The course of the disease is variable, it can be asymptomatic with spontaneous resolution or progress with organ failure, even death. Objective: To describe the diagnostic protocol for suspected sarcoidosis. Case report: A clinical case is report here with several apparently unrelated symptoms and signs, in which an algorithm described in foreign literature is implemented. Conclusions: Interdisciplinarity was necessary for the correct management of this case, in which internists as moderators were fundamental because it allowed a comprehensive vision of the patient(AU)

Dysautonomia in Narcolepsy: Evidence by Questionnaire Assessment

BACKGROUND AND PURPOSE: Excessive daytime sleepiness and sudden sleep attacks are the main features of narcolepsy, but rapid-eye-movement sleep behavior disorder (RBD), hyposmia, and depression can also occur. The latter symptoms are nonmotor features in idiopathic Parkinson's disease (IPD). In the present study, IPD-proven diagnostic tools were tested to determine whether they are also applicable in the assessment of narcolepsy. METHODS: This was a case-control study comparing 15 patients with narcolepsy (PN) and 15 control subjects (CS) using the Scales for Outcomes in Parkinson's Autonomic Test (SCOPA-AUT), Parkinson's Disease Nonmotor Symptoms (PDNMS), University of Pennsylvania Smell Test, Farnsworth-Munsell 100 Hue test, Beck Depression Inventory, and the RBD screening questionnaire. RESULTS: Both the PN and CS exhibited mild hyposmia and no deficits in visual tests. Frequent dysautonomia in all domains except sexuality was found for the PN. The total SCOPA-AUT score was higher for the PN (18.47+/-10.08, mean+/-SD) than for the CS (4.40+/-3.09), as was the PDNMS score (10.53+/-4.78 and 1.80+/-2.31, respectively). RBD was present in 87% of the PN and 0% of the CS. The PN were more depressed than the CS. The differences between the PN and CS for all of these variables were statistically significant (all p<0.05). CONCLUSIONS: The results of this study provide evidence for the presence of dysautonomia and confirm the comorbidities of depression and RBD in narcolepsy patients. The spectrum, which is comparable to the nonmotor complex in IPD, suggests wide-ranging, clinically detectable dysfunction beyond the narcoleptic core syndrome.