1. Introduction
Lathosterolosis is an extremely rare disorder of cholesterol metabolism. It is an autosomal recessive disease. It is caused by the deficiency of the enzyme sterol-C5-desaturase, which is encoded by the SC5D gene, which catalyzes the conversion of latosterol to 7-dehydrocholesterol, the second final step of cholesterol biosynthesis. This deficiency prevents the synthesis of cholesterol, which acts as a precursor for lipid, bile acids, and steroid hormones. The disease manifests itself with developmental and mental delays, learning disabilities, microcephaly, facial dysmorphism, bilateral cataracts, and skeletal defects. Lathosterolosiswas first reported by Brunetti-Pierri in 2002. Only 7 cases have been reported by 2020 [1] [2] [3] [4] .
The limited information about the disease, the challenge for distinction of symptoms with other diseases, and the physician’s lack of sufficient knowledge about rare diseases make the diagnosis process difficult. In the diagnosis process, detailed physical examination and anamnesis, genetic tests, laboratory tests are used. The aim of treatment is to relieve symptoms and increase the patient’s quality of life. Lack of information about the disease, economic difficulties experienced in the treatment process, mood changes experienced during the adaptation process to the disease, social isolation and increased care responsibilities are the difficulties brought by the disease for the parent who is in the caregiver role [5] .
In this case report, a boy with a diagnosed of lathosterolosis accompanied by immunodeficiency, adrenal insufficiency and cholestasis, who was treated at Balcalı Training and Research Hospital, was examined. While the case was being handled, it was aimed to plan and implement care with the diagnoses of the North American Nursing Diagnostic Association (NANDA).
Date of The Data Was Received: 02.01.2022
Name: D.B
Age: 2 Years 1 Month
Gender: Boy
Diagnosis: Lathosterolosis, Immunodeficiency, Adrenal Insufficiency, Cholestasis, Hepatosplenomegaly
Gestational age: 36 weeks
Date of Birth: 29.11.2019
Birth type: Cesarean Section
Birth Weight: 2400 gr
Birth Height: 45 cm
Allergy: Milk, Egg, Spices, Vinegar, Beef
Family History
Father: 38 years old, self-employed.
Mother: 38 years old, housewife, 4th pregnancy, parity 3, 3 living children. She was monitored during her pregnancy due to reason she was a carrier of hepatitis B. She also used insulin injection during her pregnancy. There is a cross-cousin marriage between parents.
Child’s Vital Signs and Anthropometric Measurements: It is shown in Table 1.
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Table 1. Child’s vital signs and anthropometric measurements.
2. Medical History
The patient with immunodeficiency is receiving intravenous immunoglobulin (IVIG) treatment at a dose of 1 g/kg every 20 days. The patient, who was discharged 1 month ago, was hospitalized in the pediatric gastroenterology clinic for further examination and treatment after the polyclinic control due to the complaints of jaundice, fever, vomiting, resistant diarrhea, malnutrition, appetite and weight loss.
Genkort was added in treatment plan according to the Synacten test (ACTH) to the patient who was treated with teicoplanin, tazobactam and ganciclovir on the day of hospitalization. On the 9th day of hospitalization, the patient underwent endoscopy, colonoscopy and simultaneous phimosis operation. Biopsy was taken during the procedure and sent to pathology. After the phimosis operation, Thiocilline cream applied on the wound area.
On the 12th day of hospitalization stools was green and diarrhea continued. In the stool examination Giardia and Vancomycin-Resistant Enterococci were grown therefore Metronidazole was added to the treatment.
In order to start total parenteral nutrition (TPN) for the child whose diarrhea continued, central venous catheterization was performed on the 15th day of hospitalization and TPN was started as 12 × 5 cc per day. In the following days, the dose of TPN was gradually increased and Peptamer was added to the diet enterally.
According to colonoscopy results grade 2 esophageal varices were detected on the 16th day of hospitalization. Hepatosplenomegaly was diagnosed according to portal doppler.
Minimal pericardial effusion was detected in the echocardiography taken on the 17th day of hospitalization.
Since the INR was 1.33 in the blood tests performed on the 21st day of hospitalization, a single dose of vitamin K was administered. Since his diarrhea continued, probiotics were added to the patient’s treatment. Gentian violet (triphenylmethane compound) was started on the patient with gland dermatitis findings.
Periorbital edema was observed on the 26th day of hospitalization. Orbital MRI was planned after the ophthalmology consultation.
Erythrocyte Suspension was given on the 28th day of hospitalization due to low HTC after the examinations made because the patient’s body temperature increased.
On the 31st day of his hospitalization, tachypnea developed and he was aspirated. A chest x-ray was taken and blood gas analysis was performed. Oral intake was stopped and O2 support was dissolved with a high-flow nasal cannula. When the respiratory rate reached the normal limit, O2 support was stopped with a high-flow nasal cannula and O2 support was continued with a reservoir mask.
Central venous catheter was removed on the 35th day of hospitalization. Diaper dermatitis continues with bleeding. A loading dose of Keppra was administered due to leg tremors that continued for three days. Trombocyte suspension loading was performed due to decreased platelet level.
On the 45th day of hospitalization, the patient continued to be fed with formula, received IVIG treatment and was discharged after service consultation.
Physical Examination Finding and System Examination
Skin
The patient has jaundice and hyperpigmentation that has been going on for 2.5 months, and there is dryness in the scalp and hair. The mother of the patient said that she is using olive oil and vaseline for dryness and itching in his bod. The patient has progressive diaper dermatitis.
Head-Neck
The patient has red eye and orbital edema. Common candida albicans (mikostatin is applied) and 4 - 5 tooth decay were seen in the mouth. Her mother stated that the patient had gingival bleeding and epistaxis 3 - 4 times a month.
The respiratory system
The child has intermittent cough with wheezing, vomiting, hemoptysis, and tachypnea.
Genitourinary System
Color of the urine is yellow, pH: 7
Gastrointestinal System
The child has diarrhea 5 - 7 times a day and vomit which including mucus once a day. The child has loss of appetite, weight loss, abdominal pain, and abdominal edema. His stool is yellow and watery.
Neuromuscular System
The child has a joint pain, weakness, fatigue, hypotonia and inability to walk.
Extremities
Pain and edema in the joint: The child does not allow to touch and is agitated.
Laboratory Results
Hemoglobin 7.8 g/dl (12 - 16)
Hematocrit 22.6% (35 - 49)
Leukocyte 3.2 × 103/mm3 (4 - 12)
PLT 22 103/μl (176 - 373)
INR 1.33 (0.85 - 1.2)
Uric acid 3.9 mg/dl (3.03 - 5.8)
Bilirubin (total) 3.33 mg/dl (0.2 - 1.2)
Creatinine 0.17 mg/dl (0.3 - 1)
AST 106 U/L (0 - 40)
ALT 87 U/L (8 - 39)
BUN 29 mg/dl (5 - 18)
CRP 23 mg/dl (0 - 5)
Potassium 4.5 mEq/L (3.7 - 5.5)
Calcium 9.15 mEq/L (7.0 - 12.0)
Sodium 136 mEq/L (135 - 145)
Nursing Diagnoses
It is at the end as a table (Table 2).
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Table 2. Nursing diagnoses and care plan according to the patient’s data (arranged according to NANDA Diagnostic Taxonomy) [7] .
3. Discussion
Lathosterolosis is an inherited disorder in the cholesterol synthesis mechanism. Until 2020, only 7 patients have been reported. While the age at diagnosis varies from 22 months to 10 years, some cases were diagnosed after death.
In this case report, there is a nursing care plan for the solution of the current problems of a 2-year-old boy diagnosed with latosterolosis. Nursing diagnoses suitable for NANDA diagnostic taxonomy were determined in the study. These diagnoses are; delayed growth and development, imbalanced nutrition: less than body requirements, deficient fluid volume, impaired tissue (skin) integrity, impaired oral mucous membrane, fear, diarrhea, acute pain, fatigue, risk for secondary ınfection, risk for bleeding, fluid and electrolyte ımbalances. Interventions suitable for the diagnoses were planned and the results were evaluated (Table 2).
When our case was compared with a 7-year-old boy who was diagnosed with lathosterolosis for the first time in 2002; portal hypertension, cholestasis and neurological hypotonia are observed in both cases. Although bilateral cataract was seen in the first reported case, in our case, eye redness and orbital edema were present [1] .
Our case was diagnosed with hepatosplenomegaly according to portal dopplers taken on the 16th day of hospitalization. Abnormal liver tests and hepatosplenomegaly were also observed in the third and sixth reported cases [3] [6] .
Since there are no case reports involving nursing care in the literature about the disease, it is anticipated that the case will contribute to the literature and nursing care plans.
4. Result
Evaluation of the cases that we do not see frequently in the clinics within the framework of the nursing care plan is important in terms of increasing the standard and quality of nursing care. Case reports guide the use of evidence-based nursing approach in clinics. For this reason, there is a need for nurses to carry out studies that include nursing care, which is adapted to cases in uncommon diseases.
Acknowledgements
We thank Hüseyin Alpsoy, an undergraduate student, who helped with the implementation and data collection in the clinic. I also thank all study area, Balcalı Hospital in staff, patient and family who made this study possible.
NOTES
*Corresponding author.