1. Introduction
Niemann-Pick is an autosomal recessive lysosomal storage disease that is classified into four subgroups, namely A, B, C, and D (1, 2). Types A and B involve a sphingomyelinase deficiency, while Niemann-Pick type C is associated with an alteration in the intracellular transport of cholesterol and, subsequently, its accumulation in the lysosomes (1). The features of the disease include prolonged neonatal jaundice (3), massive hepatosplenomegaly, as well as pulmonary and cardiac involvement with or without neurologic manifestations (4). Niemann-Pick type A, which is also known as the infantile form, is the most common type, and its characteristic features include hepatomegaly, brain damage, and walking, speaking, and learning problems (2). It usually results in early death because of the extensive neurological involvement (2, 4). Niemann-Pick type B is associated with organomegaly, but without severe neurological symptoms (4). In Niemann-Pick type C, there is a broad spectrum of clinical manifestations, including liver and spleen involvement and neurological problems such as seizure, progressive dementia, and dystonia. Respiratory problems have also been noted (1, 5).
Due to the complex clinical progression and multi-organ involvement, the anesthetic management of Niemann-Pick patients is challenging. However, only a few articles are available concerning the anesthetic implications of such patients (1, 5, 6). Hence, in this case report we describe the anesthetic management of a Niemann-Pick patient.
2. Case Presentation
This case report concerns a two-year-old female (weighing 8 kg) known to have Niemann-Pick disease who was scheduled for an elective closed reduction of a femoral shaft fracture under general anesthesia. The first manifestation of her condition was hepatosplenomegaly at five months of age, which is when the diagnosis was made based on blood and bone marrow findings. She also exhibited developmental delay in terms of both speaking and walking. Her past surgical history was negative. However, her past medical history was positive for repeat hospital admissions due to respiratory system infection. In terms of the preoperative assessment, abdominal sonography had shown hepatosplenomegaly, while echocardiography had demonstrated satisfactory left ventricular function. The preoperative lab data were within normal limits, except for Hbg 9.7 g/dL, PLT 125000/μL, Alk-P’se 254 IU/L, urea 13 mg/dL, Cr 3 mg/dL, and CRP 15 mg/L. In the operating room, the patient was awake and conscious. Mild suprasternal retraction was observed during the respiration (respiratory rate 28 per minute). During the lung auscultation, a bilateral crackle was heard at the base of both lungs (probably due to previous infections). The sclera was also icteric. Additionally, the abdomen was distended and mild tenderness existed during palpation over the right upper quadrant. Packed red blood cells (RBC) and platelets (PLT) were reserved for the patient the day before surgery. In the operating room, standard monitoring consisting of pulse oximetry, electrocardiography (ECG), and non-invasive blood pressure (NIBP) was instituted. The baseline O2 saturation in the room’s air was 87%, and the NIBP was 78/51 mmHg.
After preoxygenation with O2 (4 - 5 L/min) via a face mask, 16 μg fentanyl and 1 mg midazolam were injected intravenously, then the induction of anesthesia was performed using the sevoflurane inhalation technique. When the proper depth of anesthesia was achieved, a 1.5 laryngeal mask airway (LMA) was inserted while the patient was spontaneously breathing. Anesthesia was maintained using sevoflurane (3% - 4%) and remifentanil (0.5 μ/kg/min). Her vital signs were stable during the operation, which lasted about 30 minutes. At the end of the procedure, an acetaminophen suppository (125 mg) was administered for postoperative pain management and sevoflurane was discontinued. The LMA was removed after laryngeal reflexes or swallowing had returned. The patient was then transferred to the postoperative care unit (PACU) and, after fulfilling the discharge criteria, she was sent to the ward while hemodynamically stable.
3. Discussion
In general, Niemann-Pick disease can affect multiple organs, including the liver, spleen, lung, and heart, with or without neurologic deficits (4). All these features can prove challenging during the anesthetic management of such patients. Due to both the liver involvement and the probability of an alteration in drug metabolism, anesthetic drugs should be used with caution in Niemann-Pick patients. We therefore chose to use sevoflurane, which can be better tolerated in this specific condition. Additionally, its rapid washing out after discontinuation helped us to achieve rapid recovery with minimal postoperative sequel on respiration and ventilation. Similar to the approach of Araujo et al. (5), we used remifentanil as the analgesic because of its short duration of action, which provided us with a rapid and predictable recovery. Moreover, its metabolism, which is independent of liver function, rendered it a good analgesic choice for our patient. Another consideration is the possibility of thrombocytopenia due to splenomegaly. Miao et al observed thrombocytopenia in 50% of their patients (1). Our patient also had mild thrombocytopenia, so we cautiously reserved packed RBC and PLT for her prior to the operation.
Renal dysfunction was another challenge in our patient. In 2009, renal involvement in Niemann-Pick disease was reported for the first time by Grafft et al. (4). They described how renal involvement should be considered in all patients with this disease, especially those with renal dysfunction. It should be noted that none of our chosen medications negatively impact renal function. In Niemann-Pick type A, it is better to avoid the use of a muscle relaxant due to the neurologic involvement (6), so we decided to insert the LMA under deep inhalational anesthesia without muscle paralysis.
In conclusion, the wide spectrum of manifestations and the complexity of multi-organ involvement necessitate a thorough understanding of the disease in order to identify the best method of anesthesia and, hence, to reduce perianesthetic morbidity and mortality in Niemann-Pick patients.
