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2010-05-25-11 Pai syndrome © Andreeva www.TheFetus.net
Pai syndrome


Elena Andreeva, MD., Ludmila Juchenko, MD.

Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia.
  

Introduction

Synonym: Cleft, median, of upper lip with polyps of facial skin and nasal mucosa.

Pai syndrome is a rare disorder. It is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma and normal neuropsychologic development [1]. Other accompanying findings include clinodactyly, umbilical hernia, and cryptorchidism [2].

Not all the reported cases have midline cleft lip [3]. The case reported by Rudnik-Schoneborn and Zerres displayed a skin tag of forehead, downward slanting palpebral fissure, bifid uvula, and high plate with main elements of Pai syndrome [4].


Case report

This is a case of a 23-year-old G2 P1 with non-contributive personal or family history. She came to our department for the ultrasound scan at 27 weeks of gestation.

We have detected an echogenic round lesion at the location at the corpus callosum. It measured 25x15 mm. We assumed that this lesion could be a lipoma of the corpus callosum. There was a skin tag detected both by 2D and 3D ultrasound, located among the eyes in the area of glabella.

No other abnormalities were detected on the ultrasound examination.

Patient delivered at 40 weeks of gestation. The neonates weight was 4050 grams and it measured 54 cm, Apgar score 7/8 in 5th/10th minute, respectively. The diagnosis of lipoma of the corpus callosum was confirmed after delivery. The skin tag coresponded exactly with our ultrasound images. It was removed 6 days after delivery, histology result was cutaneus papilloma. The examination of the neonate showed also a high gothic palate with cleft of the soft palate and bifid uvula. The karyotype of the neonate was normal 46 XX.

The final diagnosis based on all the above findings, lipoma of the corpus callosum, nasal skin tag, cleft of the soft palate and bifid uvula, was Pai syndrome.

The neonate suffured of some neurological symptoms, especially of increased nervous excitability. The baby is 5 months old at the moment and is followed up by neurologist.


Images 1,2: Sagittal and axial view of the fetal brain, note the echogenic lesion located at the corpus callosum.



Images 3,4: 2D and 3D image of the fetal face, note the nasal skin tag.



Images 5,6: Image 5 shows a detail of the nasal skin tag. Image 6 shows a neonate after delivery, the nasal cutaneus papilloma corresponds exactly with the ultrasound images.



Video: Sagittal view of the head, note the nasal skin tag and the echogenic area near corpus callosum.



References:

1. Guion-Almeida, M. L., Mellado, C., Beltran, C., Richieri-Costa, A. Pai syndrome: report of seven South American patients.  Am. J. Med. Genet. 143A: 3273-3279, 2007.
2. Pai, G. S., Levkoff, A. H., Leithiser, R. E., Jr. Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps.  Am. J. Med. Genet. 26: 921-924, 1987.
3. Al-Mazrou, K. A., Al-Rekabi, A., Alorainy, I. A., Al-Kharfi, T., Al-Serhani, A. M. Pai syndrome: a report of a case and review of the literature.  Int. J. Pediat. Otorhinolaryng. 61: 149-153, 2001.
4. Rudnik-Schoneborn, S., Zerres, K. A further patient with Pai syndrome with autosomal dominant inheritance?  J. Med. Genet. 31: 497-498, 1994.



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