Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia
-
Stephanie Berger
and
Anand N. Bosmia
Abstract
A term neonate was diagnosed with septo-optic dysplasia (SOD) on the 11th day of life. The patient had hypernatremia, hypoglycemia, and hypothermia. The patient’s persistent hypothermia prompted a head ultrasound to examine for abnormalities of the central nervous system, which suggested an absent septum pellucidum. A subsequent brain magnetic resonance imaging confirmed an absent septum pellucidum, and coupled with pituitary dysfunction and bilateral optic nerve hypoplasia, the diagnosis of SOD was made. The authors argue that persistent hypothermia in a neonate may raise the index of suspicion for SOD and thereby facilitate an earlier diagnosis of SOD.
References
1. Ferran K, Paiva IA, Gilban DL, Resende M, Souza MA, et al. Septo-optic dysplasia. Arq Neuropsiquiatr 2010;68:400–5.10.1590/S0004-282X2010000300014Search in Google Scholar
2. Kelberman D, Dattani MT. Genetics of septo-optic dysplasia. Pituitary 2007;10:393–407.10.1007/s11102-007-0055-5Search in Google Scholar
3. Kelberman D, Dattani MT. Septo-optic dysplasia – novel insights into the aetiology. Horm Res 2008;69:257–65.10.1159/000114856Search in Google Scholar
4. Sankararaman S, LaFrance D, Matthews M, Boykin K, Wells W, et al. Index of suspicion. Case 1: round opacity on chest radiograph, cough, and fever in a child. Case 2: groin pain and limp in a 10-year-old. Case 3: focal neurologic signs in the presence of sickle cell disease. Case 4: hypoglycemia and microphallus in an infant. Pediatr Rev 2011;32:389–96.Search in Google Scholar
5. Webb EA, Dattani MT. Septo-optic dysplasia. Eur J Hum Genet 2010;18:393–7.10.1038/ejhg.2009.125Search in Google Scholar
6. Karnsakul W, Sawathiparnich P, Nimkarn S, Likitmaskul S, Santiprabhob J, et al. Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism. Ann Hepatol 2007;6:97–103.10.1016/S1665-2681(19)31939-8Search in Google Scholar
7. Hellstrom A, Aronsson M, Axelson C, Kyllerman M, Kopp S, et al. Children with septo-optic dysplasia – how to improve and sharpen the diagnosis. Horm Res 2000;53(Suppl 1):19–25.10.1159/000053200Search in Google Scholar PubMed
©2013 by Walter de Gruyter Berlin Boston
Articles in the same Issue
- Masthead
- Masthead
- Review article
- Application of imaging modalities for evaluating neuroblastoma
- Images in pediatric endocrinology
- Lingual thyroid
- Original articles
- A levothyroxine dose recommendation for the treatment of children and adolescents with autoimmune thyroiditis induced hypothyroidism
- Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism
- Perinatal complications and higher risks of offspring thyroid dysfunction in early childhood of Graves’ disease mothers with euthyroidism
- Clinical characteristics and management of cranial diabetes insipidus in infants
- Desmopressin administration in children with central diabetes insipidus: a retrospective review
- An electronic surveillance system for monitoring the hospital presentation of nutritional vitamin D deficiency in children in Scotland
- Frequency and severity of ketoacidosis at onset of autoimmune type 1 diabetes over the past decade in children referred to a tertiary paediatric care centre: potential impact of a national programme highlighted
- Vitamin D status is associated with early markers of cardiovascular disease in prepubertal children
- Evaluation of bone mineral density in children with type 1 diabetes mellitus
- Observational study of diabetes management in type 1 diabetic school-age children during holiday versus school days
- Relationship of body mass index and GAD65 antibody status on β-cell secretion at diabetes onset in African-American children
- Serum dipeptidyl peptidase 4 activity in children with type 1 diabetes mellitus
- Concomitant autoantibodies in newly diagnosed diabetic children with transient celiac serology or proven celiac disease
- Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey
- Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes
- Prevalence of metabolic syndrome among urban Indian adolescents and its relation with insulin resistance (HOMA-IR)
- Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system
- Evaluation of serum neopterin levels and its relationship with adipokines in pediatric obesity-related nonalcoholic fatty liver disease and healthy adolescents
- Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
- Patient reports
- Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn
- Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism
- A novel atypical presentation of insulin autoimmune syndrome (Hirata’s disease) in a child
- Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia
- Speech and language delay in two children: an unusual presentation of hyperthyroidism
- Lissencephaly presenting with congenital hypothyroidism
- PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
- Primary hyperparathyroidism as an extremely rare cause of secondary myelofibrosis in childhood
- A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands
- A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1
- Central precocious puberty in a girl with Prader-Willi syndrome
- Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia
- Short communication
- No impact of obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children
- Letter to the Editor
- Reliability and validity of homeostasis model assessment for insulin resistance and β-cell dysfunction in critically ill children with hyperglycemia
Articles in the same Issue
- Masthead
- Masthead
- Review article
- Application of imaging modalities for evaluating neuroblastoma
- Images in pediatric endocrinology
- Lingual thyroid
- Original articles
- A levothyroxine dose recommendation for the treatment of children and adolescents with autoimmune thyroiditis induced hypothyroidism
- Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism
- Perinatal complications and higher risks of offspring thyroid dysfunction in early childhood of Graves’ disease mothers with euthyroidism
- Clinical characteristics and management of cranial diabetes insipidus in infants
- Desmopressin administration in children with central diabetes insipidus: a retrospective review
- An electronic surveillance system for monitoring the hospital presentation of nutritional vitamin D deficiency in children in Scotland
- Frequency and severity of ketoacidosis at onset of autoimmune type 1 diabetes over the past decade in children referred to a tertiary paediatric care centre: potential impact of a national programme highlighted
- Vitamin D status is associated with early markers of cardiovascular disease in prepubertal children
- Evaluation of bone mineral density in children with type 1 diabetes mellitus
- Observational study of diabetes management in type 1 diabetic school-age children during holiday versus school days
- Relationship of body mass index and GAD65 antibody status on β-cell secretion at diabetes onset in African-American children
- Serum dipeptidyl peptidase 4 activity in children with type 1 diabetes mellitus
- Concomitant autoantibodies in newly diagnosed diabetic children with transient celiac serology or proven celiac disease
- Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey
- Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes
- Prevalence of metabolic syndrome among urban Indian adolescents and its relation with insulin resistance (HOMA-IR)
- Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system
- Evaluation of serum neopterin levels and its relationship with adipokines in pediatric obesity-related nonalcoholic fatty liver disease and healthy adolescents
- Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
- Patient reports
- Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn
- Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism
- A novel atypical presentation of insulin autoimmune syndrome (Hirata’s disease) in a child
- Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia
- Speech and language delay in two children: an unusual presentation of hyperthyroidism
- Lissencephaly presenting with congenital hypothyroidism
- PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
- Primary hyperparathyroidism as an extremely rare cause of secondary myelofibrosis in childhood
- A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands
- A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1
- Central precocious puberty in a girl with Prader-Willi syndrome
- Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia
- Short communication
- No impact of obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children
- Letter to the Editor
- Reliability and validity of homeostasis model assessment for insulin resistance and β-cell dysfunction in critically ill children with hyperglycemia
