Juvenile dermatomyositis with Anti-SAE antibodies in a Moroccan child associated with pseudo-angioedema: a case report.

BACKGROUND: Juvenile Dermatomyositis (JDM) is the leading cause of non-infectious inflammatory myopathy in children. It is a heterogeneous group of autoimmune diseases characterized by a variable combination of muscular, dermatological, and visceral involvement. Myositis-specific autoantibodies help define homogeneous subgroups with common clinical characteristics and prognoses. Anti-SAE (small ubiquitin-like modifier 1 (SUMO-1) activating enzyme) antibodies are among the most recently discovered specific autoantibodies. The presence of these antibodies is very rare, making it challenging to define clinical features and prognosis in the juvenile form. We report the first case of an African patient with juvenile dermatomyositis and positive anti-SAE antibodies. CASE REPORT: A 5-year-3-month-old Moroccan boy presented to the pediatric emergency department with dysphagia that had been evolving for two days, preceded two months earlier by facial erythema associated with fatigue, lower limb pain, difficulty walking, and progressive inflammatory polyarthralgia. On admission, the child had a heliotrope rash with predominant pseudo-angioedema on the lips, periungual telangiectasia, and Gottron's papules over the bilateral interphalangeal and metatarsophalangeal joints. The patient had a more pronounced proximal muscle weakness in the lower limbs. He had no urticaria, fever, arthritis, calcinosis, cutaneous ulcers, or lipodystrophy. The Joint examination was normal, as was the pleuropulmonary examination. The electroneuromyography showed myogenic changes in all four limbs. Laboratory findings showed elevated levels of creatine phosphokinase and lactate dehydrogenase and a mild inflammatory syndrome. The electrocardiogram was normal. The anti-SAE antibodies were positive. The boy was diagnosed with juvenile dermatomyositis. He received methylprednisolone bolus therapy followed by oral prednisone. The latter was gradually tapered in combination with weekly intramuscular methotrexate. As a result, dysphagia disappeared within 48 h. After two weeks, there was an improvement in the muscular score and a significant regression of facial pseudo-angioedema. CONCLUSION: We report the first African patient with anti-SAE autoantibody-positive JDM. He had a typical dermatological manifestation of JDM associated with pseudo-angioedema predominant on the lips; a rarely reported sign in DM and JDM patients. The patient responded well to corticosteroid therapy and methotrexate.

Cleft palate-lateral synechiae syndrome: a case report.

Cleft palate-lateral synechiae syndrome (CPLSS) is an extremely rare congenital malformation syndrome with undetermined etiology, characterized by a cleft palate and lateral intraoral synechiae linking the free borders of the palate to the mouth floor. We report a case of a female neonate, admitted for suckling difficulties with a cleft lip and palate associated to multiple lateral intraoral synechiae. Resection of the synechiae allowed oral feeding. Cleft palate-lateral synechiae syndrome is an exceptional syndrome as only seventeen cases have been reported in the literature. Synechiae can be isolated or more frequently in association with other congenital anomalies such as cleft lip and/or palate. These synechiae can cause functional deficits, especially in the respiratory and feeding tracts, language disorders or recurrent otitis. Although it is exceptional, this malformative entity must be known by medical practitioners in order to set up a well-adapted therapeutic protocol.

Brain MR imaging in acute hyperammonemic: Case report.

Acute hyperammonemic encephalopathy is rare and generally is not widely known; only a few pediatric cases were found in the literature. These lesions' clinical presentation differs significantly so they can mimic other lesions. In this case report, we discuss a 5-year-old boy who presented with generalized seizures and was unconscious in an apyretic context, for which she had a cranial computed tomographic and magnetic resonance imaging, both objectified an acute hyperammonemic encephalopathy resulting from an enzyme deficiency. Magnetic resonance imaging revealed lesions throughout the cortex, with the perirolandic and occipital cortices spared. This distribution of cerebral signal abnormalities on magnetic resonance imaging with an abrupt and profound neurological disorder is secondary to hyperammonemic. The knowledge of the magnetic resonance imaging results of this entity is essential to accelerate the diagnosis, and treatment, also to prevent sequelae.

The impact of COVID-19 on the quality of life of southern Moroccan doctors : A gender-based approach.

OBJECTIVES: After the World Health Organisation (WHO) declared COVID-19 a global pandemic, various countries took preventive health measures to limit the spread of the coronavirus. The quality of life (QOL) of many populations was affected by lockdown and social distancing. The pandemic increased healthcare professionals' workload and decreased doctors' QOL. Our study aimed to evaluate the QOL of doctors in southern provinces of Morocco during the COVID-19 pandemic. In addition, the study compared QOL of the two genders at that time. METHODS: This was a cross-sectional and descriptive study. The sample included 257 doctors practicing in the southern provinces of Morocco. To assess QOL, we used the online self-administered WHOQOL-BREF questionnaire, which evaluates QOL in four domains: physical, mental, social and environmental. The cut-off between good and poor QOL was 60. RESULTS: All doctors showed poor QOL in all domains. The mean scores and standard deviations for the physical, mental, social, and environmental domains were 57.88 ± 17.12, 57.09 ± 20.13, 55.57 ± 23.66 and 47.99 ± 17.34, respectively. Comparing the two genders, males had a higher QOL than females with a statistically significant difference (p-value ≤ 0.05) in all domains. Both men and women had poor QOL in the environmental domain (less than 60). Doctors who worked directly in the COVID-19 circuit had poorer QOL in all domains. Even with scores lower than 60, males working in COVID-19 circuit had better QOL compared to females, except in the social domain. CONCLUSION: Southern Moroccan doctors' QOL was reduced in all domains. All doctors working in COVID-19 circuit had poor QOL, and women's scores were even lower than those of men.