NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.

of Medical History: A male infant, 8 months old, was admitted to hospital with cough and fever. The clinical symptoms were found to be mental retardation, obesity, dystonia, movement limitation, and visual retardation. Early development was normal, but after 6 months, the child developed upright head instability, difficulty grasping, and seizures. Symptoms and Signs: The child presents with mental retardation, obesity, increased muscle tone, motor dysfunction, visual impairment, and seizures. DIAGNOSIS: A whole exon test was performed to detect a neurite extension and migration factor (NEXMIF) gene mutation (NM_001008537.2: c.1042C > T (p. Arg348*)), which is known to be associated with intellectual disability and neurological symptoms. In addition, the test revealed a mutation in the Kinase D interacting substrate of 220 kDa (KIDINS220) gene (NM_020738.2: c.3242_3243insC (p. Leu1082AIafs*5)) with a heterozygous mutation in the father and wild type in the mother. TREATMENT: The patient was treated with anti-infection, aerosol inhalation, calcium supplement, and anti-epileptic drugs (levetiracetam), and the disease was controlled. Home and hospital rehabilitation is also underway. CLINICAL OUTCOME: The condition of the child improved after treatment and no seizures occurred again. The patient needs continuous rehabilitation treatment and follow-up observation. CONCLUSION: For male children with unexplained neurodevelopmental disorders and comorbidities such as obesity, dystonia, and seizures, mutations in related genes such as NEXMIF should be considered. Clinical practice should improve genetic testing as early as possible to provide a basis for genetic counseling.

A case of neonatal tsutsugamushi disease diagnosed with the aid of rickettsial macrogenomic detection.

BACKGROUND: Tsutsugamushi, also known as bush typhus, is a naturally occurring disease caused by Orientia tsutsugamushi. We reported a case of vertical mother-to-newborn transmission of Orientia tsutsugamushi infection in a newborn from Yunnan (China). CASE PRESENTATION: Decreased fetal movements were observed at 39 weeks of gestation. After birth, the newborn (female) had recurrent fever, shortness of breath, and bruising around the mouth and extremities. At 5 h 58 min of age, the newborn was admitted for fever, shortness of breath and generalized rash. The liver was palpable 3 cm below the costal margin, and the limbs showed pitting edema. There was subcutaneous bleeding. Investigations suggested heavy infection, myocardial damage, decreased platelets. Treatment with cefotaxime and ampicillin failed. The mother was hospitalized at 29 weeks of gestation with a fever for 4 consecutive days, and an ulcerated crust was found in the popliteal fossa. Due to this pregnancy history, A diagnosis of Orientia tsutsugamushi infection was suspected in our index case and confirmed by macrogenomic testing and she was treated with vancomycin and meropenem, and later azithromycin for 1 week. The newborn was discharged in good general condition, gradually normalizing body temperature, and decreasing rash and jaundice. There were no abnormalities on subsequent blood macrogenomic tests for the baby. And one month later she showed good mental health, sleep, and food intake and no fever, rash, or jaundice. CONCLUSION: Determining the cause of symptoms is the key to treating diseases, especially the rare diseases that can be misdiagnosed. SUITABLE FOR PEOPLE WITH: Infectious Diseases; Neonatology; Obstetrics.