A RARE CASE OF PITUITARY APLASIA E POSTER ID – IRIA 1219.

A RARE CASE OF PITUITARY APLASIA

E POSTER ID – IRIA 1219

CLINICAL PRESENTATION

5 years old boy Presented with global developmental delay

CE-MRI

MRI FINDINGS

Small pituitary fossa Aplastic anterior

pituitary Normal posterior

pituitary and infundibular stalk

No e/o ectopic location of anterior and posterior pituitary

DIAGNOSIS

Pituitary aplasia

DISCUSSION

Congenital pituitary gland absence (aplasia) is a rare anomaly that may involve absence of both the anterior and the posterior pituitary lobes and, in many cases, the pituitary stalk 

Imaging findings Absence of an identifiable pituitary gland Small sella turcica

Differential diagnosis: Severe hypoplasia of the pituitary gland Empty sella

CLINICAL PRESENTATION

Global developmental delay Neonatal hypoglycemia Micropenis

MRI FINDINGS

 absence of an identifiable pituitary gland

Small and flat sella turcica, sometimes covered by a layer of dura

Absent / hypoplastic infundibular stalk

Ectopic posterior pituitary

DISCUSSION Congenital pituitary gland absence (aplasia) is a rare

anomaly that involves absence of both the anteriorand the posterior pituitary lobes and, in many cases, the pituitary stalk

In patients with neonatal panhypopituitarism,severe symptoms of hypoglycemia may appear during the 1st hours of life

Other symptoms include Seizures Apnea Cardiovascular collapse and arrest

Infants are of normal length and weight at term or postterm

Physical examination may be unrevealing; however, some male infants have a microphallus, a poorly developed scrotum, and/or small undescended testes

The normal size of the infant at birth has been explained by the presence of maternal growth hormone

Facial abnormalities—include, cleft lip and palate, poorly developed nasal septum, and hypotelorism

Although the size of infants is normal at birth, growth retardation and delayed bone age may be found at 6 – 8 weeks of age

Neonatal hypoglycemia associated with poorly functioning anterior pituitary gland may represent a series of separate syndromes with no structural brain anomalies or with defects such as Craniofacial defects Absence of septum pellucidum Septo-optic dysplasia Arrhinencephaly, Holoprosencephaly Anencephaly

IMAGING FINDINGS

Characteristic imaging finding of pituitary aplasia is absence of an identifiable pituitary gland

Small and flat sella , may be covered by a layer of dura

Absence of pituitary stalk, posterior pituitary Differential diagnosis

1. Severe hypoplasia of the pituitary gland Sella is empty but generally not flat Infundibulum and posterior pituitary are generally

present

2. Empty sellaPituitary gland is severely flattened.

SAG AND CORONAL T1 WEIGHTED IMAGES SHOWING ABSENCE OF ANTERIOR AND POSTERIOR PITUITARY

REFRENCES

1. Kalhan SC, Parimi PS. Metabolic and endocrine disorders. In: Fanaroff AA, Martin RJ,eds. Neonatal-perinatal medicine: diseases of the fetus and infants. 7th ed. St Louis, Mo:Mosby, 2002; 1355–1367.

2. Barkovich AJ. Congenital malformations of the brain and skull. In: Barkovich AJ. Pediatric neuroimaging. 3rd ed. Philadelphia, Pa:Lippincott Williams & Wilkins, 2000; 351–352.

3. Sadeghi-Nejad A, Senior B. A familial syndrome of isolated “aplasia” of the anteriorpituitary: diagnostic studies and treatment inthe neonatal period. J Pediatr 1974;84:79–84.