ABSTRACT
The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Due to the fact that some patients with SCD may be complicated with autoimmune diseases, the high early misdiagnosis and missed diagnosis rates are observed. One case of 13-year old female with severe anemia, multiple joint swelling and pain in left limbs and paralysis of bilateral lower limbs with the extremely low level of serum vitamin B12 and poly-glandular involvement as well as a variety of positive auto-antibodies (anti-intrinsic factor antibody, anti-parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti-neutrophil cytoplasmic antibody) was retrospectively analyzed. The patient was diagnosed as SCD with autoimmune disease (undifferentiated connective tissue disease and autoimmune polyglandular syndrome). The patient′s condition gradually alleviated after high-dose intravenous methylprednisolone, immunoglobulin, naproxen (then changed to hydroxychloroquine 1 month later), vitamin B12 and levothyroxine sodium tablets supplementation, blood transfusion and rehabilitation. SCD with autoimmune diseases is rare in children, and the clinical manifestations vary greatly. Early recognition and early treatment can improve the prognosis of SCD. The clinical data of this child were retrospectively analyzed, so as to improve the understanding of the disease by clinicians.
ABSTRACT
The clinical characteristics, diagnosis and treatment, and the gene mutation of 2 different phenotypes patients developed with tyrosine hydroxylase deficiency (THD) were retrospectively analyzed.Case 1 was a severe infantile parkinsonism accompanied with motor retardation, which started with psychomotor retardation without dystonia in infantile period.Clinical symptoms were fluctuating.Case 2 was a mild dopa-responsive dystonia, which started with progressive lower extremity dystonia in school age.The genetic study revealed that both patients had heterozygous mutations in tyrosine hydroxylase ( TH) gene.Case 1 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 698G>A (maternal). Case 2 was compound heterozygous mutations in the TH gene at c. 457C>T(paternal) and c. 1481C>T (maternal). Both patients dramatically improved after the treatment with Levodopa.THD should be considered in any children with or without mental retardation presenting with fluctuations symptoms or fluc-tuations dyskinesia.Genetic testing is the most important diagnostic method.
ABSTRACT
Four cases of Pentalogy of Cantrell were diagnosed by prenatal ultrasonography and confirmed by autopsy after labor induction.There were 1 case of complete Pentalogy of Cantrell and 3 cases of incomplete Pentalogy.In 3 cases of incomplete Pentalogy of Cantrell,1 case presented with high umbilical cord prolapse,extraspectoral heart,partial defect of the lower part of the sternum,partial defect of the pericardium,single umbilical artery and cervical lymphatic cyst;1 case presented with high umbilical cord prolapse,extraspectoral heart,thoracic fissure and ventricular septal defect;and 1 case presented with umbilical cord,extraspectoral heart,partial inferior sternal segment defect,ventricular septal defect and bilateral clubfoot varus.In l case of complete Pentalogy of Cantrell,there were high umbilical cord bulge,extraspectoral heart,chest fissure and inferior segment defect,anterior diaphragm and pericardium defect,total forebrain deformity,right 12th ribs loss and ventricular septal defect.Ectopic heart and omphalocele are typical echographic features of Pentalogy of Cantrel and prenatal ultrasonography is of important value in early diagnosis of this congenital malformation.