AMA Publishing Group: Pituitary Diseases Topic Collection

“Blinding” Empty Sella Can Lumbar Puncture Be Avoided? “Blinding” Empty Sella

Frassanito P, De Bonis P, Caputo C, et al. — Sun, 01 Jul 2012 00:00:00 GMT

Primary empty sella syndrome is an anatomicoclinical condition characterized by radiological evidence of sellar arachnoidocele (unrelated to previous surgical or radiotherapeutic treatment of this region) and is associated with endocrine disturbances and signs of intracranial hypertension (headache, visual disturbances, and papilledema), especially in young women. We report on an unusual case of empty sella disguising the diagnosis of an ocular inflammatory disease.

4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations 4H Syndrome With Late-Onset GH Deficiency

Potic A, Brais B, Choquet K, et al. — Sun, 01 Jul 2012 00:00:00 GMT

Objective

To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and hypogonadotropic hypogonadism.

Design

Case report.

Setting

University teaching hospital.

Patient

A 20-year-old male patient with 4H syndrome.

Results

The patient was found to have delayed tooth eruption and a late-onset growth hormone deficiency without overt growth failure. He was a compound heterozygote for the novel missense mutations R1005H and A1331T of POLR3A, which codes for the largest subunit of RNA polymerase III.

Conclusion

This is the first report of this type of leukodystrophy from southeastern Europe, which suggests that POLR3A mutations should be suspected in patients with hypomyelination and various central nervous system–based endocrine abnormalities.

“Blinding” Empty Sella

Eggenberger E, Cornblath WT. — Wed, 01 Aug 2012 00:00:00 GMT

We read with interest the “Images in Neurology” contribution from Frassanito et al, and we have some comments about their observations. Primary empty sella syndrome is often asymptomatic; more than 80% of patients in one series were endocrinologically normal, and headache only occurred in 10% of patients in another series. Papilledema or other visual disturbances are even less common. The diagnosis of primary empty sella requires that previous adenoma with infarction, infection, and trauma be excluded. The authors seem to use the term “primary empty sella syndrome” interchangeably with idiopathic intracranial hypertension (IIH) or pseudotumor cerebri (see the first sentence in the “Comments” section concerning pseudotumor cerebri in the Frassanito et al article); however, this is misleading. An empty sella is present in approximately 70% of patients with IIH; however, this radiographic finding does not indicate IIH or pertain to the current intracranial pressure.

“Blinding” Empty Sella—Reply

Frassanito P, De Bonis P. — Wed, 01 Aug 2012 00:00:00 GMT

In reply