Miller’s Syndrome with Bleeding Nasal Polyp

Abstract

In this case we report rare clinical entity of Millers syndrome in a small child of 6 years. It is basically an autosomal recessive condition characterized by anomalies of face and limbs such as malar hypoplasia, micrognathia, cleft lip and palate, restricted airway, bones and joints malformations [1, 2]. In this child apart from all these features we came across bleeding nasal masses attached to the inferior tubinates, which were causing complete nasal obstruction. Nasal mass was surgically removed and sent for histopathological examination. It turned out to be nasal polyp with very high vascularity containing mucopolysaccharide material.

Introduction

Miller’s syndrome is an extremely rare entity seen in 1:1million births. It is inherited in an autosomal recessive pattern caused by mutations in the DHODH gene [3, 4]. It was first reported by M. Miller in 1969.It is also referred as “Post axial acrofacial dysostosis”. It includes other disorders such as craniofacial and limb abnormalities. Most of the abnormalities are noticeable at birth. Craniofacial abnormalities include malar hypoplasia, Micrognathia (small lower jaw), cleft palate and cleft lip, choanal atresia, colobomas of lower eye lids etcetera.

Clinical report

A six-year-old child was brought to our outpatient department with nasal bleed along with a nasal mass protruding through left nostril. Bleeding was minimal and stopped with little pressure on left ala of nose. On examination child appeared restless, breathing through mouth with protruding tongue. Breathing was noisy and his nasal bones appeared flattened. He had craniomegaly with micrognathia. Zygomatic complex appeared hypoplastic. Stature was short for his age along with restricted movements of shoulder and knee joints. Knee joints appeared swollen. Patient also had umbilical hernia. Clinically it appeared to be a typical case of Miller’s syndrome (Fig. 1). Patient ‘s father gave history of consanguineous marriage.

Fig. 1.

Bleeding nasal polyp

Patient was investigated further to confirm our clinical diagnosis. Apart from complete haemogram he was sent for computerized tomogram (CT scan) of paranasal sinuses and ultrasonography of abdomen.

As the child was irritable, he was moving his head during CT scan procedure as a result CT scan images were not very clear. But still facial bones abnormalities and nasal masses in the nasal cavities could be appreciated. (Figs. 2 and 3) Ultrasonography of abdomen revealed hepatospleenomegally and also confirmed presence of umbilical hernia. (Fig. 4).

Fig. 2.

Facial bones showing multiple bony abnomalities

Fig. 3.

Abnormal palatal bones

Fig. 4.

Hepatospleenomegaly and umbilical hernia

To relieve the child from mouth breathing and snoring problem his nasal mass was removed under general anesthesia. Specimen was sent for histopathological examination (Fig. 5). Histopathology report showed benign lesion covered by stratified squamous epithelium and stoma containing mucopolysaccharide material with blood vessels (Fig. 6).

Fig. 5.

Nasal polyp gross specimen

Fig. 6.

Histopathology slide showing stratfied epithelium with mucopolysaccharide material in the stoma

Discussion

Millers Syndrome is very rare autosomal recessive condition occurring in 1:10, 00000 newborns. Less than 80 cases have been reported in medical literature. Males and females are equally affected. It is caused by the mutations in the DHODH gene (Dihydroorotate dehydrogenase) which provides instructions for creating proteins. Depending upon the functions of particular protein, this can affect functioning of multiple organs [1, 3].

Signs and symptoms may vary from patient to patient. The most common are craniofacial abnormalities such as malar hypoplasia, micrognathia, cleft palate, choanal atresia, broad bridge of nose, bones, and joints malformations, Micrognathia and choanal atresia can cause breathing problems. Hepatospleenomegally and umbilical hernia also be present. Additionally in our patient there was a vascular nasal polyp in the left nostril. There is an autosomal dominant condition known as Nager syndrome with almost similar presentation but has preaxial dystosis. Treacher Collins syndrome is an autosomal recessive condition with middle and inner ear abnormalities. In addition, a variety of similar syndromes have been described in the literature.

Prenatal ultra sound may detect abnormal brain development and other signs of Miller’s syndrome. Amniocentesis can be performed if possible [5].

Treatment is basically directed towards relieving symptoms and helping the patient to live quality life. Surgical correction of limbs and joints and lower jaw, cleft palate, cleft lip, and eyes is recommended. Appropriate physical, occupational help, speech therapy should be advised at the earliest. Genetic counseling for affected individuals and their families is required. Life expectancy in Miller’s syndrome is early childhood as there is no cure. Most of the children pass away between the ages of 2–10 due to convulsions or aspiration pneumonia.

Conclusion

Miller’s syndrome is less studied entity genetic disorder as it is very rare involving newborn babies. It warrants detailed study to provide prompt diagnosis and management to reduce mortality, morbidity as well as adverse psychological, social and economic impact.

Author Contributions

Paper writing, surgery, follow up and approval of the manuscript done by the author Dr. Sajidkhan Pathan.

Funding

No funds, grants, or other support was received.

Data Availability

The authors confirm that the data supporting the findings of this case report are available within the article (and/or) its supplementary materials (Figs. 1, 2, 3, 4, 5 and 6).

Declarations

Conflict of interest

The authors declare that there are no conflicts of interest. The authors have no relevant financial or non-financial interests to disclose.

Ethical Approval and Consent to Participate

Author has complied with the guidelines of the ethics committee of the institute namely Indian Institute of medical Sciences and Research, Warudi, District Jalna-India- to seek ethics approval and consent to participate for this case report in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments.

Consent for Publication

Written and informed consent for publication of clinical details and clinical images were obtained from the patient’s guardian. A copy of the consent form is available for review by the editor of this journal.

Human and Animal Participants

No animals are involved in this case report. The author affirms that human research participants provided informed consent for the publication of the Figs. 1, 2, 3, 4, 5 and 6.