Response To Dr. Tang Letter to Editor: Inconspicuous Nasoethmoidal Encephalocele Might Be Wrongly Diagnosed

We appreciate your comments on our diagnosis of a case of frontonasal dysplasia.

We reviewed Nond's new classification system and the patient's data and computed tomography (CT) findings again as you suggested. However, we were not able to find evidence of frontoethmoidal encephalomeniogocele (FEEM).

Given the genetic counseling and the morphologic features based on the CT scan, we have concluded that frontonasal dysplasia is the right diagnosis for this patient. Genetic analysis revealed that the patient had a normal ALX3 gene sequence, indicating a sporadic occurrence of frontonasal dysplasia. If the patient would have been interested in the exact gene sequence, we could have ordered the analysis of the ALX1 or ALX4 genes, but the parents of the patient did not want to do so in this case.

Despite the lack of evidence, we believe it still could be possible that this patient had FEEM. As you mentioned, there is a possibility that some patients with FEEM features are diagnosed with frontonasal dysplasia. We agree. In the diagnosis of FEEM, extracranial pathological findings of interest include herniation masses, facial deformities, and frontonasal bone morphology. Intracranial pathological findings of interest include morphology of the anterior cranial floor and brain malformations.

Although we have concluded that our patient's diagnosis is frontonasal dysplasia, we appreciate your valuable comments on the similarity to FEEM. We feel the differential diagnosis of the two types of lesions requires further research.

Regards,

No potential conflict of interest relevant to this article was reported.

Publication History

Received: 09 May 2016

Accepted: 11 May 2016

Article published online:
20 April 2022