Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.

BACKGROUND: Xp21 contiguous gene deletion syndrome is a rare genetic metabolic disorder with poor prognosis in infants, involving deletions of one or more genes in Xp21. When deletions of adrenal hypoplasia (AHC), Duchenne muscular dystrophy (DMD), and chronic granulomatosis (CGD) loci are included, complex glycerol kinase deficiency (CGKD) can be diagnosed. We present a case of CGKD that was initially misdiagnosed and died during treatment in our hospital in terms of improving our understanding of the clinical features and diagnosis of this disease, as well as highlighting the need for more precise dosing of corticosteroid replacement therapy. CASE PRESENTATION: A 48-day-old full-term male infant was transferred to our medical center with global growth delay and persistent vomiting. Routine laboratory tests revealed hyperkalemia, hyponatremia, and a high level of creatine kinase. The initial diagnosis was adrenal cortical hyperplasia (ACH), then revised to adrenocortical insufficiency with a normal level of ACTH detected. After supplementing the routine lipid test and urinary glycerol test, CGKD was diagnosed clinically due to positive triglyceridemia and urinary glycerol, and the follow-up gene screening further confirmed the diagnosis. The boy kept thriving after corticosteroid replacement and salt supplementation. While levels of serum ACTH and cortisol decreased and remained low after corticosteroid replacement was administered. The patient died of acute type 2 respiratory failure and hypoglycemia after an acute upper respiratory tract infection, which may be the result of adrenal crisis after infection. Infants with CGKD have a poor prognosis, so physicians should administer regular follow-ups, and parents counseling during treatment to improve the survival of patients. CONCLUSIONS: Overall, CGKD, although rare, cannot be easily excluded in children with persistent vomiting. Extensive blood tests can help to detect abnormal indicators. Adrenal crisis needs to be avoided as much as possible during corticosteroid replacement therapy.

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene. METHODS: We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II. Subsequently, next-generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively. RESULTS: The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7 years). No abnormality in growth hormone or insulin-like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous PCNT mutation (c.6157G>T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents. Meanwhile, significant deficiency of PCNT expression was identified in the patient. CONCLUSION: Our study identified a novel PCNT mutation associated with MOPD II, expanded the mutation spectrum of the PCNT gene and improved our understanding of the molecular basis of MOPD II.

Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.

INTRODUCTION: To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis. MATERIAL AND METHODS: By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD. RESULTS: Excessive accumulation of amniotic fluid was observed during pregnancy. The patient was born prematurely with normal body weight. The patient was a 4-month old boy admitted for anorexia, watery diarrhea, electrolyte disorders (hyponatremia, hypokalemia and hypochloremia) and metabolic alkalosis. The patient was also considered to be affected by Batter syndrome. After treating with spironolactone, indomethacin and potassium chloride sustained release tablet, the symptom of watery diarrhea was alleviated, the ingested amount of milk increased gradually and the amount of urine became normal; however, electrolyte imbalance persisted and the frequency of bowel movements remained high. Genetic analysis demonstrated that the patient had a SLC26A3 c.269_270dupAA homozygous mutation in exon 3, leading to a frameshift from 91st amino acid Gly and alteration of the SLC26A3 transmembrane protein sequence, thus resulting in a Cl-/HCO3- exchange barrier. The parents of the patient had normal phenotypes and were all heterozygous carriers of the mutation. Moreover, the patient was diagnosed as CLD. Sodium chloride and potassium chloride rather than spironolactone and indomenthacin were given to the patient to correct the dehydration, so the symptom of watery diarrhea alleviated and the blood gas and electrolyte levels returned to the normal range. In addition, the patients morale was good and the ingested amount of milk was moderate. CONCLUSIONS: Persistent diarrhea and electrolyte disorder in pediatrics are easy to misdiagnose as CLD. Furthermore, it is difficult to identify Batter syndrome, Gitelman syndrome, renal tubular acidosis and CLD. Blood and stool electrolyte detection and SLC26A3 genetic tests are helpful for diagnosis, and sodium chloride and potassium chloride replacement therapy are critical for the patient prognosis.

Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.

INTRODUCTION: To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis. MATERIAL AND METHODS: By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD. RESULTS: Excessive accumulation of amniotic fluid was observed during pregnancy. The patient was born prematurely with normal body weight. The patient was a 4-month old boy admitted for anorexia, watery diarrhea, electrolyte disorders (hyponatremia, hypokalemia and hypochloremia) and metabolic alkalosis. The patient was also considered to be affected by Batter syndrome. After treating with spironolactone, indomethacin and potassium chloride sustained release tablet, the symptom of watery diarrhea was alleviated, the ingested amount of milk increased gradually and the amount of urine became normal; however, electrolyte imbalance persisted and the frequency of bowel movements remained high. Genetic analysis demonstrated that the patient had a SLC26A3 c.269_270dupAA homozygous mutation in exon 3, leading to a frameshift from 91st amino acid Gly and alteration of the SLC26A3 transmembrane protein sequence, thus resulting in a Cl-/HCO3- exchange barrier. The parents of the patient had normal phenotypes and were all heterozygous carriers of the mutation. Moreover, the patient was diagnosed as CLD. Sodium chloride and potassium chloride rather than spironolactone and indomenthacin were given to the patient to correct the dehydration, so the symptom of watery diarrhea alleviated and the blood gas and electrolyte levels returned to the normal range. In addition, the patients morale was good and the ingested amount of milk was moderate. CONCLUSIONS: Persistent diarrhea and electrolyte disorder in pediatrics are easy to misdiagnose as CLD. Furthermore, it is difficult to identify Batter syndrome, Gitelman syndrome, renal tubular acidosis and CLD. Blood and stool electrolyte detection and SLC26A3 genetic tests are helpful for diagnosis, and sodium chloride and potassium chloride replacement therapy are critical for the patient prognosis.

[An investigation of ketoacidosis in children with newly diagnosed type 1 diabetes].

OBJECTIVE: To investigate the incidence of diabetic ketoacidosis (DKA) in children with newly diagnosed type 1 diabetes. METHODS: A retrospective analysis was performed for the clinical data of 224 children with newly diagnosed type 1 diabetes, and according to the presence or absence of DKA, these children were divided into DKA group and non-DKA group, with 112 children in each group. The DKA group was further divided into ≥5-year group (65 children) and <5-year group (47 children), and according to the blood gas parameters, this group was divided into mild group (26 children), moderate group (29 children), and severe group (57 children). The factors influencing the development of DKA were analyzed, as well as the clinical and laboratory features of DKA children with different ages. RESULTS: The most common symptoms in these 224 children with type 1 diabetes were polydipsia (86.2%), polyuria (78.6%), and weight loss (57.1%). Compared with the non-DKA group, the DKA group had a significantly higher percentage of children who were aged <5 years, who had low family income, or whose parents had an educational level of senior high school or below. The DKA group had significantly higher levels of random blood glucose and HbA1C and significantly lower levels of pH, HCO3-, and C-peptide than the non-DKA group (P<0.05). There was no significant difference in the percentage of children with severe DKA between the ≥5-year group and the <5-year group (P>0.05). Compared with the <5-year group, the ≥5-year group sufferred from symptoms for a significantly prolonged period, and had a significantly lower level of random blood glucose and significantly higher levels of HbA1C and C-peptide (P<0.05). CONCLUSIONS: DKA has a high incidence rate in children with type 1 diabetes, and the development of DKA is associated with age, parents' educational level, and family income.

The therapeutic effects of acupuncture on patients with chronic neck myofascial pain syndrome: a single-blind randomized controlled trial.

Chronic neck myofascial pain syndrome (MPS) is a common disorder seen in clinics. There is no gold standard method to treat myofascial pain. We investigated the effects of acupuncture on patients with chronic neck MPS by a single-blind randomized controlled trial. A total of 35 patients were randomly allocated to an acupuncture group (AG) or a sham acupuncture group (SG). Each subject received acupuncture treatment twice per week for three consecutive weeks. The primary outcome measure was quality of life as assessed with Short Form-36, and secondary outcome measures were neck range of motion (ROM), motion-related pain, and Short-Form McGill Pain Questionnaire (SF-MPQ), as determined by a blinded investigator. The clinical assessments were made before treatment (BT) and after six acupuncture treatments (AT), as well as four weeks (F1) and 12 weeks (F2) after the end of the treatment. A total of 34 patients completed the trial. The results indicated that there is no significant difference in the ROM, motion-related pain, and SF-MPQ scores between AG and SG at AT, F1 and F2 (all p > 0.05). However, AG has greater improvement in physical functioning and role emotional of Short Form-36 quality of life at F2. The results indicate that acupuncture may be used to improve the quality of life in patients with chronic neck MPS.

Hypothyroidism and cerebral infarction: a case report and literature review.

Thyroid hormone has been studied in cardiovascular disease but rarely in cerebrovascular disease (CVD). Recently, hypothyroidism has been suggested to be related to risk factors such as atherosclerosis but not directly to CVD. We reported a 52-year-old woman with acute ischemic stroke, and greatly improved general conditions after thyroid hormone replacement. Hypothyroidism is reported to be one of the causes of hypertension or elevated cholesterol levels, the established risk factors of CVD. Further studies of the possible association of thyroid hormone and CVD are warranted. Thyroid hormone might need to be surveyed in CVD patients especially if there are symptoms and signs of thyroid disorders.