Hemiparesis With Hypoglycemia in a Child With Hypopituitarism Involving LHX4 Gene Deletion.

We report a case of a 17-month-old boy with developmental delay who presented with acute-onset right-sided hemiparesis and hypoglycemia. Severe hypotension developed during his sedation for MRI and magnetic resonance angiography. Imaging revealed a hypoplastic pituitary gland within a shallow sella turcica and findings suggestive of moyamoya syndrome. Hemiparesis resolved 5 hours after correction of hypoglycemia with dextrose infusion, and severe hypotension improved with crystalloid fluids and vasopressors. Magnetic resonance angiography repeated 24 hours later revealed resolution of the vascular finding. Additional biochemical testing was consistent with hypopituitarism, and genetic evaluation revealed that the patient had a microdeletion including the LHX4 gene, which has been implicated in combined pituitary hormone deficiency type IV. Hypoglycemia frequently presents with autonomic or neuroglycopenic symptoms. However, when hypoglycemia presents with an isolated neurologic deficit like hemiparesis with preservation of alertness, it can be challenging to differentiate a cerebrovascular event from hypoglycemia-induced symptoms, leading to a delay in endocrine evaluation. Hypoglycemic hemiparesis is rare in childhood and is reported in children with diabetes mellitus or hyperinsulinism. This case expands the clinical spectrum of hemiparesis as a presenting sign of hypoglycemia in growth hormone and adrenocorticotropic hormone/cortisol deficiencies.

Who should be tested for fragile X carriership? A review of 1 center's pedigrees.

OBJECTIVE: To determine whether following American College of Obstetricians and Gynecologists and American College of Medical Genetics recommendations would have detected carriers in pedigrees of patients diagnosed with fragile X. STUDY DESIGN: Using a database of patients referred to the UT genetics clinic for evaluation of fragile X, pedigrees of cases of fragile X syndrome were analyzed. RESULTS: Eight of 17 cases identified had a family history of unexplained mental retardation (MR) or fragile X MR and would have been diagnosed using current guidelines. Other findings noted in the pedigrees included autism, speech or hearing problems, attention deficit hyperactivity syndrome and behavioural disorders. No risk factors were found in 4 cases. CONCLUSION: Using current guidelines, less than one half of fragile X carriers would have been identified during a prenatal assessment. Using other risk factors in screening would likely increase carrier detection rate.