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CASE REPORT
Year : 2019  |  Volume : 22  |  Issue : 3  |  Page : 153-156

Lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in neurofibromatosis-1: A Rare entity


Department of Medicine, Chukwuemeka Odumegwu Ojukwu University, Awka; Department of Medicine, Imo State University, Orlu, Nigeria

Date of Submission03-May-2018
Date of Acceptance13-Jun-2018
Date of Web Publication26-Sep-2019

Correspondence Address:
Dr. Ernest Ndukaife Anyabolu
Department of Medicine, Chukwuemeka Odumegwu Ojukwu University, Awka
Nigeria
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DOI: 10.4103/smj.smj_24_18

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  Abstract 


The incidence of neurofibromatosis (NF), comprising NF-1 and NF-2, seems to be rising in Nigeria. The features of NF-1 have not been completely identified in the country. This case report documents a rare massive lumbar plexiform neurofibroma in NF-1, associated with short stature and kyphoscoliosis. The patient was a 38-year-old man who presented on account of a lumbar swelling for 2 months. He has multiple café-au-lait hyperpigmented lesions, multiple neurofibromas, a massive plexiform neurofibroma in the left lumbar area, a short stature, and kyphoscoliosis. His nephew has a similar skin lesion but has no plexiform neurofibroma. Computed tomography scan showed a massive neurofibroma in the lumbar region without evidence of malignant transformation. Concomitant occurrence of a massive plexiform neurofibroma, short stature, and skeletal abnormalities in NF-1, though rare, was presented. The patient had a massive lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in NF-1.

Keywords: Awka, kyphoscoliosis, massive lumbar plexiform neurofibroma, neurofibromatosis type 1, Nigeria, short stature


How to cite this article:
Anyabolu EN. Lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in neurofibromatosis-1: A Rare entity. Sahel Med J 2019;22:153-6

How to cite this URL:
Anyabolu EN. Lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in neurofibromatosis-1: A Rare entity. Sahel Med J [serial online] 2019 [cited 2019 Nov 22];22:153-6. Available from: http://www.smjonline.org/text.asp?2019/22/3/153/267895




  Introduction Top


Neurofibromatosis (NF) is a genetic multisystem disorder. It has two broad forms: NF-1 and NF-2. The incidence of NF-1 seems to be increasing in Nigeria.[1]

In NF-1, the manifestations may be observed in early life as café-au-lait lesions and freckling, while neurofibromas and increasing sizes of café-au-lait and freckling are pronounced with increasing age and in adult life.[2] Pressure features, bone abnormalities, large head size, short stature, and plexiform neurofibromas have been reported as complications of NF-1.[3] Malignant transformation or a rapid increase in size may occur in plexiform neurofibromas.[4]

There is a paucity of studies on NF-1 with plexiform changes, bone abnormalities, and short stature reported in Nigeria. This has prompted us to report this unusual and rare case of NF-1 with concomitant occurrence of a massive lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in an adult in Nigeria.


  Case Report Top


The patient, a 38-year-old man, Igbo and Nigerian, presented at the outpatient clinic of Chukwuemeka Odumegwu Ojukwu University Teaching Hospital, Nigeria, with the complaint of a progressive painful swelling at the back of 2 months' duration, associated with low-grade fever. He has no antecedent trauma to the site or use of chemical irritant. The pain was transiently relieved by analgesic drugs. He has no anorexia, weight loss, nausea, vomiting, or change in bowel habit.

He has skin growths all over his body, first noticed at the age of 11 years. None of his sisters, brothers, or parents has similar skin growths. However, his nephew, about 13 years old, has a similar skin lesion. His wife and child have no such skin symptoms. He has no significant alcohol or cigarette use and has a thriving business. There was no family history of kyphoscoliosis or short stature.

Physical examination showed a young man in no obvious distress; he was afebrile. His pulse was 76/min and blood pressure was 122/80 mmHg. Apex beat was at the 5th left intercostal space; heart sound S1 and S2 were heard. There was no other adventitious sound.

Skin and musculoskeletal system examination revealed that he has a short stature (height 1.31 m and arm span 1.30 m). There were multiple hyperpigmented café-au lait lesions, kyphoscoliosis, and a mass at the back in the left lumbar region, measuring 27 cm in diameter, with a shiny surface that was not tender and was attached to the underlying skin. The mass was firm, not mobile but showed no transillumination. There were diffuse multiple neurofibromas [Figure 1] and [Figure 2].
Figure 1: The patient showing a massive left lumbar plexiform neurofibroma and multiple neurofibromas

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Figure 2: The patient showing a massive left lumbar plexiform neurofibroma and multiple neurofibromas

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Results of investigations

Urinalysis results showed microscopic hematuria. Other findings were within normal values (microscopy white blood cells [WBCs]: 0–1/hpf, red blood cells: 1–2/hpf, and others: normal).

Full blood count values were within normal range (hemoglobin: 12.9 g/dl, platelet count: 221 × 109/ml, WBC: 4700/ml, neutrophils: 55.8%, lymphocytes: 30.9%, and monocytes: 3.3%). Erythrocyte sedimentation rate was 37 mm/1st h.

GeneXpert test was negative to Mycobacterium tuberculi.

Mantoux test was negative.

His chest X-ray showed evidence of crowding of the ribs and kyphoscoliosis [Figure 3].
Figure 3: Chest X-ray of the patient showing scoliosis and rib crowding

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Computerized tomogram

Computed tomography (CT) scan serial pre- and postcontrast axial images were acquired at level of the lung bases through the abdomen and pelvis to the pubic symphysis. Sagittal and coronary reformatting was done.

Coronary reformatting images on bone window show marked scoliosis of the lumbar spine with convexity on the right side and apex at levels of L3 and L4 vertebrae. Associated marked 50 – 70% lateral displacement of the L4 vertebral body over that of L5 is noted.

Bone and soft-tissue window images show some widening of the left neural foramina at L2, L3, and L4, with an ill-defined hypodense area extending from the lumbar spine through the widened neural foramina into the left psoas muscle noted.

A large fairly oval-shaped hypodense area is noted within the left lumbar and gluteal regions measuring 6.1 cm × 15.8 cm × 7.8 cm in anteroposterior, longitudinal, and transverse dimensions, respectively. It appears to be located within the subcutaneous tissue showing peripheral enhancement on postcontrast images, likely collective, possibly communicating with the aforementioned left paravertebral hypodensity. Associated medial displacement of the left ureter was noted. However, both contrast-filled ureters appear fairly normal in caliber on the delayed phase images.

Both kidneys are normal in shape and outline, measuring 9.1 cm × 4.1 cm and 9.0 cm × 4.9 cm on the right and left, respectively. The delayed phase images show fairly normal pelvicalyceal system. No backpressure changes, renal stone, or mass lesion was appreciated.

Urinary bladder is almost empty of urine, accounting for thickened walls.

No bladder mass lesion was seen.

The liver (approximately 13.3 cm) is obscured at its store by artifacts, making its complete assessment technically difficult.

The spleen (9.8 cm) shows a smooth outline and fairly normal parenchymal density. No splenic mass lesion was appreciated.

The gallbladder and the pancreas both appear normal.

Impression

Marked lumbar scoliosis, with an oval-shaped hypodense area within the left paravertebral lumbar and gluteal subcutaneous fat planes.

Possibilities include:

  1. Tuberculosis of the spine, with associated left paravertebral and superficial left lumbar and gluteal collections
  2. Vertebral osteomyelitis
  3. Dumbbell tumors NF-1
  4. Neurogenic tumor.


A diagnosis of NF-1 complicated by plexiform massive neurofibroma, kyphoscoliosis, and short stature was made.

He was educated and counseled on his illness. Analgesic agents were given to alleviate pain. He was followed up in the clinic for 6 months. His fever and pain resolved, but the plexiform neurofibroma remained the same size. Subsequently, he was lost on follow-up.


  Discussion Top


The incidence of NF-1 appears to be rising in Nigeria. Plexiform NF-1 with disfigurement also seems to be on the increase.[5] This index patient and his nephew, aged about 13 years, have NF-1, both bringing to 8 cases observed in our center in the past 5 years, suggesting that NF-1 is not rare in this domain and is perhaps increasing in incidence. Strikingly, this index patient was the first that has a massive lumbar plexiform NF-1, although about three others were noted to have various sizes of facial, neck, and shoulder plexiform neurofibromas, whereas two of them have facial disfigurement.

This index patient has multiple café-au-lait lesions, multiple neurofibromas, and massive lumbar plexiform neurofibroma features that fulfilled the criteria required for the diagnosis of NF-1.[6] Glaring clinical features can make a clear diagnosis of NF-1 in adults.[6] However, a few suspicious cases may require genetic studies.[7]

NF-1 is commonly observed in a first-degree relatives but may occur in second-degree relatives as was observed in this index patient whose nephew has the clinical features of NF-1 but not in his siblings, parents, or offspring.[8]

Ocular lesions are sometimes found in patients who have NF-1.[9] However, this was not observed in this patient.

Short stature and kyphoscoliosis were noted in this patient, in agreement with documented bone abnormalities in NF-1 patients.[3],[10] However, to the author's knowledge, this was the first case of short stature and kyphoscoliosis resulting from NF-1 observed in Nigeria, also supporting the rarity of these abnormalities in NF-1 patients. One study reported NF-1 associated with Noonan syndrome, a genetically determined NF-1 and pituitary defect in which the short stature was due to gonadotropin deficiency.[11] Our index patient did not have the clinical features of hypopituitarism, though he was not evaluated for pituitary hormonal assays. The short stature was not attributable to Noonan syndrome; neither Noonan syndrome would explain the kyphoscoliosis.

A rapidly growing massive plexiform neurofibroma, as in this index patient, might suggest a malignant transformation.[4] This patient's lesion evolved over 2 months. A CT scan report showed no evidence of malignancy. However, further evaluations including tissue histology were not done. Although an abscess was considered as a differential of the NF-1, the clinical features and CT findings did not support this alternative.


  Conclusion Top


Concomitant occurrence of a massive plexiform neurofibroma, short stature, and skeletal abnormalities in NF-1, though rare, was presented. The patient had a massive lumbar plexiform neurofibroma, short stature, and kyphoscoliosis in NF 1.

Ethical and research approval

Ethics and research approval was obtained from the Ethics and Research Committee of Chukwuemeka Odumegwu Ojukwu University Teaching Hospital (COOUTH/RE61/2017, and dated 10/10/2017).

We certified that we obtained patient consent using the consent form. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity in the images.

Declaration of patient's consent

The author certifies that he has obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Odebode TO, Afolayan EA, Adigun IA, Daramola OO. Clinicopathological study of neurofibromatosis type 1: An experience in Nigeria. Int J Dermatol 2005;44:116-20.  Back to cited text no. 1
    
2.
Duong TA, Bastuji-Garin S, Valeyrie-Allanore L, Sbidian E, Ferkal S, Wolkenstein P. Evolving pattern with age of cutaneous signs in neurofibromatosis type 1: A cross-sectional study of 728 patients. Dermatology 2011;222:269-73.  Back to cited text no. 2
    
3.
Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, et al. Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options. Am J Med Genet A 2009;149A: 2327-38.  Back to cited text no. 3
    
4.
Nielsen GP, Stemmer-Rachamimov AO, Ino Y, Moller MB, Rosenberg AE, Louis DN, et al. Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation. Am J Pathol 1999;155:1879-84.  Back to cited text no. 4
    
5.
Nyabdaiti YW, Thir C, Nggada HA, Ndahi AA. Clinico-pathologic presentation and management of neurofibromatosis type 1 (Von Recklinghausen's) disease among North-Eastern Nigerians: A six-year review. Niger Med J 2009;50:80-3.  Back to cited text no. 5
    
6.
Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8.  Back to cited text no. 6
    
7.
Blue Cross and Blue Shield Association. Medical policy reference manual, genetic testing for neurofibromatosis. Policy 2017.  Back to cited text no. 7
    
8.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, et al. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet 2009;18:2768-78.  Back to cited text no. 8
    
9.
Abdolrahimzadeh B, Piraino DC, Albanese G, Cruciani F, Rahimi S. Neurofibromatosis: An update of ophthalmic characteristics and applications of optical coherence tomography. Clin Ophthalmol 2016;10:851-60.  Back to cited text no. 9
    
10.
Bizzarri C, Bottaro G. Endocrine implications of neurofibromatosis 1 in childhood. Horm Res Paediatr 2015;83:232-41.  Back to cited text no. 10
    
11.
Yapijakis C, Pachis N, Natsis S, Voumvourakis C. Is neurofibromatosis type 1-noonan syndrome a phenotypic result of combined genetic and epigenetic factors? In Vivo 2016;30:315-20.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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