deamino-arginine-vasopressin and Abnormalities--Multiple

Topics: Abnormalities, Multiple; Administration, Intravenous; Administration, Oral; Cleft Lip; Cleft Palate; Deamino Arginine Vasopressin; Diabetes Insipidus, Neurogenic; Drug Administration Routes; Drug Compounding; Female; Gastrostomy; Holoprosencephaly; Humans; Infant; Infusions, Parenteral

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

The clinical and neuroradiological findings in a case of semilobar holoprosencephaly associated to hypernatremia behaving like diabetes insipidus are described. The differential diagnosis with a neurogenic hypernatremia is discussed. The advantages of ultrasounds in the diagnosis of this malformation are pointed out. So are the characteristics which differentiate it from other neurological malformations and the importance of a dorsal sac to delimitate the more serous clinical forms.

Topics: Abnormalities, Multiple; Brain; Deamino Arginine Vasopressin; Diabetes Insipidus; Female; Humans; Hypernatremia; Infant; Sodium; Tomography, X-Ray Computed; Ultrasonography

A 3-month-old child with bilateral cleft lip and palate and holoprosencephaly was hospitalized after he developed diabetes insipidus presumably due to hypothalamic dysfunction. He was initially treated with subcutaneous vasopressin injection but was switched to therapy with desmopressin acetate (DDAVP) before discharge. Because of his abnormal nasopharyngeal anatomy, we decided to administer the desmopressin acetate sublingually, and this was effective. A single daily dose of 2 micrograms (0.4 microgram/kg) resulted in a prompt antidiuresis, and the effect gradually lessened over a 24-hour period. Serum electrolyte values were restored to normal and have remained normal after three months of treatment. After additional study, the sublingual route might be considered for the administration of small-polypeptide therapeutic agents when other routes are impractical.

Topics: Abnormalities, Multiple; Adult; Brain; Cleft Lip; Cleft Palate; Deamino Arginine Vasopressin; Diabetes Insipidus; Drug Administration Routes; Female; Humans; Infant, Newborn; Male; Pregnancy

Topics: Abnormalities, Multiple; Brain; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 16-18; Deamino Arginine Vasopressin; Diabetes Insipidus; Female; Humans; Infant; Infant, Newborn; Intellectual Disability