pituitrin and Abnormalities--Multiple

We describe a child who has congenital nasal pyriform aperture stenosis with single maxillary central incisor, holoprosencephaly and central diabetes insipidus without any apparent anterior pituitary dysfunction. Conservative management of the congenital nasal pyriform aperture stenosis is adopted and management of diabetes insipidus is described. A literature review is undertaken.

Topics: Abnormalities, Multiple; Bronchoscopy; Deamino Arginine Vasopressin; Diabetes Insipidus, Neurogenic; Enteral Nutrition; Female; Holoprosencephaly; Humans; Infant, Newborn; Intubation, Intratracheal; Magnetic Resonance Imaging; Nasal Cavity; Nasal Obstruction; Renal Agents; Tomography, X-Ray Computed; Vasopressins

A boy presented with ectrodactyly (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and microcephaly, associated with congenital hypogonadotropic hypogonadism and central diabetes insipidus. Other aspects of pituitary function were normal. We suggest that the ectrodactyly-ectodermal dysplasia-clefting syndrome can be associated with a variety of hypothalamo-pituitary dysfunctions, in addition to the already described isolated growth hormone deficiency.

Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Deficiency Diseases; Diabetes Insipidus; Ectodermal Dysplasia; Growth Hormone; Hand Deformities, Congenital; Holoprosencephaly; Humans; Hypogonadism; Infant, Newborn; Male; Microcephaly; Radiography; Vasopressins

We studied the clinical characteristics and hypothalamic-pituitary function in 23 patients with optic nerve hypoplasia (ONH), 6 months to 19 years old. All patients had decreased visual acuity and small optic discs; the septum pellucidum was absent in five of 19. Nine of 11 patients had minor EEG abnormalities, and two had microcephaly. The height, weight, and growth rate were normal in all patients 6 months to 3 1/2 years old. Hypopituitarism was found in 15 patients. Fasting and stimulated prolactin levels and the area under the prolactin curve after thyrotropin releasing hormone were significantly greater than in controls and in patients with idiopathic hypopituitarism. These results associate ONH with a high incidence of hypopituitarism, hyperprolactinemia, and neurologic abnormalities. The normal growth in the absence of measurable growth hormone suggests that hyperprolactinemia may stimulate growth temporarily and that a normal height in childhood or the presence of the septum pellucidum do not exclude the possibility of hypopituitarism.

Topics: Abnormalities, Multiple; Adolescent; Adrenocorticotropic Hormone; Adult; Child; Child, Preschool; Female; Growth; Growth Hormone; Humans; Hypopituitarism; Hypothalamo-Hypophyseal System; Infant; Male; Optic Nerve; Prolactin; Septum Pellucidum; Thyrotropin; Thyroxine; Triiodothyronine; Vasopressins

A 4-month old child presented with facial malformations and severe hypernatremia. Hypernatremia was secondary to diabetes insipidus due to a disorder of ADH secretion, associated with cerebral malformations. Clofibrate treatment was ineffective. However, after the patient was treated by a low osmotic residue diet, an increased water-intake and hydrochlorothiazide, natremia became normal and growth resumed.

Topics: Abnormalities, Multiple; Clofibrate; Diabetes Insipidus; Face; Humans; Hydrochlorothiazide; Hypernatremia; Infant; Limbic System; Male; Vasopressins