Recurrent Concurrent Diabetic Ketoacidosis and Thyroid Storm.

Diabetic ketoacidosis (DKA) and thyroid storm are serious complications of underlying disease states. Either condition can induce the other, and the co-occurrence of these conditions is uncommon. We present the case of an adolescent patient with type 1 diabetes and autoimmune hypothyroidism who developed recurrent concurrent DKA and thyroid storm twice in an eight-month period. The simultaneous development of DKA and thyroid storm is uncommon with only 28 cases previously reported. Co-presentation of these two life-threatening conditions occurs in people with either preexisting diabetes, thyroid disease, or both. The purported pathophysiology of how DKA and thyroid storm affect the other is discussed.

Pathogenicity of a glucokinase gene mutation and description of its clinical phenotype.

Glucokinase gene (GCK) mutations comprise approximately 10% of cases of maturity-onset diabetes of the young (MODY). Over 800 different mutations in GCK have been reported in the Human Gene Mutation Database, the vast majority of which result in MODY type 2. The missense mutation p.Leu122Val is listed in that database as "disease-causing;" however, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain significance." Both databases reference the same Italian pediatric patient reported by Massa et al in 2001, but no phenotypic description of the patient is included in the original article. We report a pedigree of three patients over two generations affected with GCK mutation c.364C > G (p.Leu122Val) to support the clinical significance of this mutation and to provide the first phenotypic description of patients with this particular mutation.

Severe Hypertriglyceridemia With New-Onset Type 1 Diabetes in Diabetic Ketoacidosis.

Hypertriglyceridemia is a complication in the presentation of diabetic ketoacidosis (DKA) but has been reported in the pediatric population infrequently. We report a 13-year-old female with new onset type 1 diabetes in DKA, who developed extreme hypertriglyceridemia. Our patient's case is unique as her triglyceride levels were markedly higher than those in other reports and required a longer duration of time to resolve. We review the literature on the concomitant presentation of DKA and hypertriglyceridemia, as well as its pathophysiology and treatment.

Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature.

Background Radioactive iodine (RAI) therapy is prevalent in the treatment of Graves' disease. Adverse effects in pediatrics are not well-described. Case presentation A 13-year-old female underwent RAI therapy for Graves' disease. Eight days later, she developed facial pain and forehead burning. She was diagnosed with sinusitis and started on pseudoephedrine with resolution in 24 h. Conclusions She endured prolonged discomfort due to an under-recognized adverse effect of RAI. Studies identify the nose as a site of RAI accumulation and smaller nasal passages may predispose children to sinusitis. We report the first pediatric case of sinusitis following RAI. With the increasing use of RAI to treat Graves' disease, clinicians must recognize this adverse effect.

Pediatric stroke as the presenting symptom of new-onset type 1 diabetes mellitus without DKA: case report and literature review.

Background Stroke and other neurologic complications are rare in pediatric type 1 diabetes mellitus (T1DM) without severe diabetic ketoacidosis (DKA) or poor glycemic control. Case presentation A previously healthy, 10-year-old female presented with acute thalamic stroke, non-acidotic new T1DM diagnosis and negative hypercoagulopathy workup. She received routine insulin therapy and aspirin, and returned to neurologic baseline within a year without stroke recurrence. Conclusions The contribution of non-acidotic hyperglycemia to stroke risk is better described in adults. Even though unable to prove causality, this case should at least raise awareness of the possible association of pediatric new-onset diabetes and stroke for optimal outcomes.

Septooptic Dysplasia with an Associated Arachnoid Cyst.

A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia. Magnetic resonance imaging of the brain confirmed the known history of arachnoid cyst with hydrocephalus but also revealed anterior pituitary hypoplasia, absence of the posterior pituitary bright spot, a thin pituitary stalk, and bilateral optic nerve hypoplasia. A diagnosis of septooptic dysplasia (SOD) was made. Hormone replacement with hydrocortisone and levothyroxine was started with improvement in the infant's glycemic control, thermoregulation, feeding, and cholestasis. This case reinforces the importance of careful physical examination and laboratory review in a patient with known history of arachnoid cyst which has been previously described as an associated feature of optic nerve hypoplasia and hypopituitarism.

Visual diagnosis: 6-month-old boy with leg pain.

Pediatricians play an important role in diagnosing OI as a cause of fracture and may be asked to differentiate this uncommon genetic diagnosis from intentional trauma and other causes of fracture. Early referral to a pediatric endocrinologist, physical therapist, and orthopedic surgeon for the evaluation and treatment of low bone mass and recurrent fractures is important because early medical and surgical intervention may help to minimize the rate of future fractures, even within the first year of life. Continued follow-up with physical and occupational therapy, audiology testing, and regular evaluations of dental health are all essential for children with OI.

Transient hypothyroidism in premature infants after short-term topical iodine exposure: an avoidable risk?

Studies in preterm infants have shown that prolonged treatment with topical iodine (multiple doses, often over multiple days) can transiently suppress thyroid function. However, it is uncertain if topical iodine exposure for very short periods of time can cause significant changes in thyroid function. We report two cases of transient hypothyroidism in preterm infants after short-term exposure to topical iodine during surgical preparation, and review their clinical and laboratory findings before and after iodine exposure. We conclude that premature infants are at risk of developing transient hypothyroidism in response to a single, short-term exposure to topical iodine, even in iodine-sufficient geographical areas. We advise monitoring of thyroid function in these infants after iodine exposure, as treatment with levothyroxine may be needed for a limited duration to prevent the sequelae of untreated hypothyroidism. Consideration of using alternative cleansing agents is also advised.

Pancreatic atrophy and diabetes mellitus following blunt abdominal trauma.

Following pancreatic trauma, loss of uninjured parenchyma as a result of surgical management is expected, and atrophy of parenchyma following nonoperative management has been described. While endocrine insufficiency as a sequela of pancreatic trauma has been reported in adults, it is not a described entity in children. We report a case of pancreatic atrophy following blunt injury in an 8 year old boy who presented 3 years later with diabetes mellitus. Further analysis revealed significant genetic predisposition to diabetes.

Ganglioneuroblastoma in a young child with Turner syndrome.

X chromosome aneuploidy has been identified as a potential risk factor for the development of neuroblastic tumors. We report a case of a 4-year-old girl with a 45,X karyotype incidentally discovered to have a large ganglioneuroblastoma on initial screening ultrasound. The incidence of these tumors in girls with Turner syndrome as well as their possible relationship to recombinant human growth hormone treatment is discussed.

Characterization of the cortisol stress response to sedation and anesthesia in children.

CONTEXT: The cortisol stress response to sedation and anesthesia in children is not well characterized. It is not clear whether it is necessary to give stress doses of corticosteroids to children with adrenal insufficiency undergoing sedated procedures. OBJECTIVE: Our objective was to describe the cortisol stress response to sedation and anesthesia in normal children. DESIGN, SETTING, AND PATIENTS: This was a prospective cohort study of 149 children ages 1 month to 17 yr who presented for routine sedated procedures. Salivary cortisol was measured at baseline, every 30 min during procedures, at completion, and at recovery. MAIN OUTCOME MEASURES: We evaluated relative change in salivary cortisol from baseline for level of sedation achieved and type of procedure performed. RESULTS: In total, 117 patients had adequate samples collected, and 110 were included in the main analysis. Twenty-five percent of patients showed an increase in salivary cortisol greater than four times baseline, consistent with a stress response. Mean salivary cortisol increased more than 3-fold from baseline (3.7±0.4, P<0.001) for all patients in the study. There was no difference for change in cortisol when comparing by level of sedation achieved or by type of procedure performed. The majority of patients with a stress response had their highest levels in the recovery phase, after their procedure was completed. CONCLUSION: Sedation and anesthesia can induce a significant rise in cortisol in children. Additional studies should be performed to validate our results and to determine whether stress dosing of corticosteroids may be needed for children with adrenal insufficiency undergoing sedated procedures.

Pubertal delay, hypokalemia, and hypertension caused by a rare form of congenital adrenal hyperplasia.

A 17-year-old female presented with diffuse muscle weakness secondary to severe hypokalemia, metabolic alkalosis, and hypertension. Additional findings included delayed puberty with primary amenorrhea. Laboratory evaluation led to a diagnosis of 17 alpha-hydroxylase/17,20-lyase (P450c17) deficiency, a form of congenital adrenal hyperplasia (CAH). Her symptoms and metabolic derangements improved with glucocorticoid replacement to suppress ACTH production and mineralocorticoid excess, although she continues to require antihypertensive therapy. Estrogen replacement was initiated due to sex hormone insufficiency. This rare disorder should be considered when evaluating patients with pubertal delay and hypertension, particularly if there is associated hypokalemia.