1. Introduction

Fazio Londe is a form of Brown-Vialetto-Van Laere Syndrome (BVVLS) (Bosch, 2011). BVVL syndrome is a rare autosomal recessive neurological disorder, which was first described by Brown in 1894 and later by Vialetto and Van Laere (Manole et al. 2017; Bandettini Di Poggio et al. 2014). A patient with BVVLS typically manifests developing bulbar signs and symptoms, sensorineural alopecia, and respiratory failure (Davis et al. 2016). It is an autosomal recessive inherited disease caused by mutations in intestinal riboflavin transporter genes (Garg et al. 2018). The disease is so sporadic because, by 2016, there have been fewer than 100 reports of BVVLS, which shows its rare incidence (Davis et al. 2016).

Women are more likely to be affected by the disease, which can reflect a critical and lethal presentation in men. The recovery period is irregular and varies from a month to several years. Fazio Londe manifests by auditory neuropathy, bulbar palsy, stridor, muscle weakness, low level of consciousness, and respiratory suppression, which is represented by diaphragmatic and vocal cord paralysis (Chaya et al. 2018). Respiratory suppression is the most common cause of death (Shi et al. 2019). 

Due to the fluctuations in the length of the disease and patients’ conditions, a special model of nursing care is required. Because of the pathophysiology of the disease, most of these patients experience severe respiratory distress in the emergency department and need careful assessment and special care, such as airway management, respiratory monitoring, and oxygen therapy (Gowda et al. 2018; Abbas et al. 2018). They may be admitted to the intensive care unit (ICU) because of acute respiratory problems related to the progressive nature of the disease (Ersoy et al. 2015). After ICU admission, appropriate respiratory nursing care, such as respiratory physiotherapy and airway suctioning is needed. Also, fluid intake should be sufficient to prevent the development of respiratory distress. Other nursing care practices are breath control training, soft diet, and teaching proper swallowing techniques to prevent aspiration, communication techniques training, and promoting self-care activities (Ersoy et al. 2015). 

Regarding the variations in patient conditions, if only routine care and hospital guidelines are provided, the patients’ needs are not met. The patient-centered care model with its capabilities can be a good care model for these patients. This method provides individual care; so that compared with the medical approach, the simultaneous consideration of the patient’s physical, mental, and social health in this approach is more prominent. The purpose of the service is to focus on core activities that directly affect the patient’s needs (Gowda et al. 2018; Abbas et al. 2018). In this article, we reported a case of the Fazio-Londe syndrome and compared it with other case reports of the same disease in the literature. Also, we discussed the use of a patient-centered nursing care model in this case. 

2. Case Presentation

A 39-year-old female patient, with speech and swallowing disorders, hypotonia, dysphagia, and hearing loss had been diagnosed with Fazio-Londe since the age of 17 and has been treated with Riboflavin (100 mg/day). She discontinued treatment a year ago. Electromyography (EMG) and nerve Conduction Velocity Test (NCV) were performed five years ago following neurofascial problems and riboflavin deficiency.

The patient was admitted with the symptoms of cough, sputum, fever, chills, myalgia, Ponto bulbar palsy, dysphagia, and respiratory distress. She received O2 therapy using a non-rebreathing mask (15 L/min), azithromycin 500 mg/day, analgesic, and 0.9% saline. After the failure in recovery and the continued severe respiratory distress, tachypnea, and cyanosis, she was intubated and mechanically ventilated (SIMV mode). The patient’s ECG result showed normal sinus rhythm with 87 rate/min. Ultrasound was performed for kidney and bladder assessment, which showed increased bladder wall thickness that raised the possibility of cystitis. Also, the result of ABG showed metabolic and respiratory alkalosis (Table 1).


 

3. Management and Outcome

The received medications included calcium gluconate infusion (30 mg/24 h), hydrocortisone (100 mg/q 12 h), albumin 20% (50 cc/day), addamel infusion/day, intramuscular Vit B12 (1000 mg/day), oral ribavirin (200 mg/day), combivent inhaler (q 6h), and riboflavin (100 mg/day). The chest X-ray was performed due to increasing sialorrhea (excessive drooling) and tracheal secretion and pneumonia were detected (Figure 1).



In order to better assessment of the lungs, the diagnostic-therapeutic bronchoscopy was performed; the infection site was washed out and suctioned (Figure 2).



The patient received antibiotic therapy, including vancomycin (1 g/q 12 h), levofloxacin (750 mg/ q 12 h), and cefepime (2 g/q 12 h). After a week the pneumonia was resolved. Due to the prolongation of the treatment process, tracheostomy was performed for the patient. With continued administration of riboflavin supplements, the patient’s acute status improved.

Nursing care for bulbar muscle weakness and salivary dysfunction included providing the patient with napkins (to maintain the patient’s independence) to cleanse her saliva when she was able to use her hands for the first few days of hospitalization. However, due to muscle weakness, endotracheal suctioning was used to remove the secretions (Yaman Aktaş & Karabulut, 2016). In the early days, a pen and paper were given to the patient to communicate with others. Over time, as the patient’s condition worsened and she was not able to use her hands, she was given an alphabet board. We rubbed her legs to help to relieve her bone pain due to calcium deficiency. The family members were also taught about the patient’s condition and the equipment needed (Amar-Dolan et al. 2020). 

Finally, the patient was discharged with a home ventilator. At home, three nurses with detailed job descriptions provided home-based care at scheduled nursing shifts (Hwang & Park, 2016). Four months after discharge, the patient’s health was assessed. She could walk with a walker, appeared in good spirits, and no signs of infection were seen on the chest Computed Tomography (CT) scan (Figure 3).


 

4. Discussion

We reported a rare case that has been little studied so far and we also reviewed the same case studies from 1990 to 2020. Data sources included PubMed, EMBASE, Google Scholar, DOAJ, Web of Science, and CINAHL without language restriction (Table 2).



The studies have reported symptoms, such as hearing loss, difficulty in breathing, hypotonia, and dysphagia; however, our patient was diagnosed with symptoms of fever, chills, sputum, cough, myalgia, tachypnea, and cyanosis. One of the most variable features of this syndrome is its different clinical periods in different patients, so that it may be lethal (Mosegaard et al. 2017). Our patient developed symptoms of myalgia, tachypnea, and cyanosis due to the discontinuation of her medications. There is no common guideline for the treatment of these patients. Here, the drugs and their related dosage is discussed.

Riboflavin (7, 8-dimethyl-10-ribityl-isoalloxazine, vitamin B2) is a water-soluble vitamin, which is the precursor of the active coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), important cofactors for carbohydrate, amino acid, and lipid metabolism (Jaeger & Bosch, 2016). Riboflavin or vitamin B2 is indispensable and important for normal cellular functions, growth, and development in all aerobic forms of life (Suwannasom et al. 2020). The intake of riboflavin is dependent on milk, meats, fatty fish, and green vegetable intake.

The recommended daily allowance of riboflavin varies from 0.4 mg (infants) to 1.6 mg (lactating women) (Donohue et al. 2020). Excess riboflavin, FAD, and FMN are excreted in the urine. Besides the major supply from the diet, unknown amounts of riboflavin are generated by bacteria and absorbed in the large intestine (Said 2015). Presently, three riboflavin transporters have been characterized: RFVT1 is mostly expressed in the small intestine, RFVT 2 in the brain, and RFVT 3 in the small intestine (Jaeger & Bosch, 2016).

The special nursing care model, which was used to maintain and enhance the patient’s abilities, prevented complications, and made her aware of the importance of regular medication. No study has yet reported a nursing care model for these patients during the disease course. There are several models for patient care, such as case method, functional nursing, team nursing, primary nursing, and modular or district nursing (Mahulea et al. 2018). Regarding the fluctuations in the disease condition, the care should be based on the patient’s changing needs; therefore, we used the patient-centered nursing care model. 

In the patient-centered care model, patients’ special health care needs and desired health outcomes are the driving force for all health care decisions and quality assessment (Bauchat et al. 2016). Patients communicate with their health care providers, and the providers treat patients not only regarding their clinical status but also they concentrate on their emotional, psychological, spiritual, cultural, and economic status (Asarnow et al. 2017)

Our patient could communicate by speaking on the first day; however, she gradually lost the ability to speak and we had to use pen and paper. After a while, her muscle weakness progressed and she could not even write. For this reason, the alphabet board was used, and the patient communicated by pointing to the letters of the designed alphabet (Oldoini 2018). Then, the patient was even unable to point and all her movements disappeared. To solve the problem, we wrote 20 important sentences on a small board that included nutritional needs, defecation, anxiety, the need for airway support and suction, family support, and talking to the doctor (Teruya et al. 2019). The nurse showed the board intermittently to the patient and asked her for confirmation with eye movements. 

Except for the communication aspect, these patients are at increased risk for bedsore, ventilator-associated pneumonia (VAP), foot muscle pain, and depression due to inactivity, muscle weakness, and intubation (Ghafari & Ghane 2017). These problems were also present in our patient. Accordingly, her foot muscle pain improved by massaging, moving the legs and preventing the legs from overlapping, and warm compresses. Also, VAP was improved by appropriate fluid intake, respiratory physiotherapy, and sterile techniques during suctioning (Meng et al. 2015). Pressure ulcer was also prevented by checking skin condition, frequent change of the position, and keeping the skin dry and clean (Rodrigues, Ferreira & Ferré‐Grau 2016). 

With the improvement of acute symptoms, the nasogastric tube, foley catheter, and other connections, which were used in the ICU were disconnected and she could take food through the mouth. She was taken out of bed several times before discharge. After training the patient and her family to use medical equipment and home care, she was discharged. Before discharge, a chest CT scan was taken to make sure the patient’s lungs were clean (Figure 3). Three hospital nurses were responsible for training the patient at home and occasional home visits. The training was based on many aspects of care. For example, reducing the psychological problems, such as claustrophobia and post-traumatic stress disorder were achieved by teaching relaxation techniques (Sadat et al. 2015). 

Another aspect of family training was suctioning, home ventilator care, changing the patient’s position, skincare, nutrition and gavage, and proper adherence to medication. Also, the need for mobility and exercise was instructed (Bishop, Walker & Spivak. 2013). These patients may have complications, such as hypostatic pneumonia, insufficient muscle strength, and reduced body reflexes, like gag and cough reflexes. For this reason, a part of care is focused on preventing pneumonia (Pina et al. 2015). We used an incentive spirometer, effective cough training, and pursed-lip training for this patient, and also the patient’s family were informed about the proper principles of airway care at home (Table 3). Regarding the fluctuation of the condition of these patients, it is better to adjust the type of care according to their condition.


 

5. Conclusion

The health care providers should follow up home care of Fazio-Londe syndrome and consider that this syndrome may be accompanied by new manifestations, such as Ponto bulbar palsy, myalgia, chills, sputum, and cyanosis. Also, the patient-centered nursing care model is suggested to care for patients with Fazio-Londe. 

Ethical Considerations

Compliance with ethical guidelines

All ethical principles are considered in this article.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or non-profit sectors.

Authors' contributions

All authors contributed in preparing this article.

Conflict of interest

The authors declared no conflict of interest. 

Acknowledgments

We thank the ICU nurses of Vali Asr Hospital in Zanjan. We also thank the patient and her family for their cooperation.

 

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