ABSTRACT
The data of a child with sphingosine phosphate lyase insufficiency syndrome (SPLIS) admitted to Children′s Hospital of Hebei Province on February 4, 2020 were retrospectively analyzed.The child had edema, complicated with ichthyosis, adrenal calcification, and hearing loss from the early infancy.Laboratory examination results suggested a low albumin level, hypercholesterolemia, a high proteinuria level, abnormal liver and renal functions, and hyponatremia.The child gave up treatment and died at home.Whole Exome Sequencing (WES) results showed two hete-rozygous mutations of SGPL1 gene (chr10: 72604336, c.134G>A, p.W45X; chr10: 72629563, c.719G>T, p.S240I). SPLIS is inherited in an autosomal recessive manner.It starts in infancy, and affects the kidney, skin, endocrine, nervous and immune systems.It is suggested that SPLIS patients should take genetic examination.Early diagnosis, appropriate intervention, and vitamin B 6 treatment may relieve some symptoms of SPLIS patients.Adeno-associated virus mediated SGPL1 gene replacement therapy can be a novel cure of SPLIS and is worthy of investigation.
ABSTRACT
Objective:To study the clinical features of neonatal hyperthyroidism.Methods:From September 2013 to September 2020, clinical data of neonates with hyperthyroidism admitted to the neonatal intense care unit of our hospital were retrospectively collected and analyzed.Results:A total of 7 neonates were included. The average gestation age was (35.8±2.3) weeks with 5 cases had GA<37 weeks. The median age of diagnostic was 16 d (7~18 d). The common clinical manifestations included tachycardia, irritability, low-grade fever, hyperhidrosis, bulimia, poor weight gain, diarrhea and jaundice. The levels of serum free triiodothyronine (FT 3) and thyroxine (FT 4) were elevated in all 7 cases and thyroid stimulating hormone (TSH) were decreased. The Doppler ultrasound of thyroid gland in two neonates revealed enlarged thyroid gland with abundant blood flow. All 7 mothers had hyperthyroidism with 4 mothers provided the history of hyperthyroidism and the other 3 were also confirmed after their infants were diagnosed. All 7 infants were treated with anti-thyroid drugs (ATD) and 2 were additionally given β-blockers to control heart rate. The median ATD duration was 40 d (7~58 d). 2 cases (both preterm infants) had slight decrease in FT 4 during medication. FT 4 of all 7 cases returned to normal before TSH. Conclusions:Neonatal hyperthyroidism has various and nonspecific clinical manifestations. Early diagnosis and timely treatment are important to prevent short-term and long-term adverse outcomes. Whether their mothers provide definite history of thyroid disorder or not, the thyroid function of the suspected neonates should be carefully monitored.
ABSTRACT
Sedation has been paid more and more attention in the treatment of critically ill children,and applied in clinical commonly.There are different reports in the literature about all kinds of sedation drug and method of use,Ramesay,prevention and control of the sedation risk.At present,benzodiazepines are the main sedation drug and constant intravenous infusion of midazolam is the commonly used method of sedation.Rasmay,Comfort scale and bispectral index are used in assessing sedation commonly.Sedation assessment and Ecg respiratory care is the key to prevent and control sedation risk.