|Year : 2015 | Volume
| Issue : 2 | Page : 81-83
Menke's kinky hair disease with visual pathway defect: An association or coincidence?
Abhijit Saha1, Samipa Mukherjee2, Joly Seth1, Suprit Basu3
1 Department of Dermatology, STD and Leprosy, Burdwan Medical College, Burdwan, India
2 Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, India
3 Department of Pediatrics, Dr. B. C. Roy Post Graduate Institute of Paediatric Sciences, Kolkata, West Bengal, India
|Date of Web Publication||9-Apr-2015|
No. 46/4, Swarnamoyee Road, P. O. Berhampore, Murshidabad 742 101, West Bengal
Source of Support: None, Conflict of Interest: None
Menke's kinky hair disease (MKHD) is a rare X-linked recessive lethal disease of multisystem involvement. The predominant clinical findings are twisted, kinky, short, sparse, coarse, whitish, silver, or gray hair, eyebrows, and eyelashes. It is a disorder of defective copper metabolism leading to progressive neurodegeneration. The prognosis is poor with most of the patients dying at the age of 3-4 years due to respiratory failure secondary to infections. It generally always affects males with no racial predilection. We hereby report a classic case of Menke's disease with visual pathway defect but normal brain imaging. To the best of our knowledge, this type of presentation has not been reported before in the literature. Awareness amongst physicians about this rare entity is important to prevent misdiagnosis and institution of necessary supportive care. Our observation further reinforces the importance of systemic evaluation in a suspected case of MKHD.
Keywords: Menke′s kinky hair disease, pili torti, rare, visual pathway defects
|How to cite this article:|
Saha A, Mukherjee S, Seth J, Basu S. Menke's kinky hair disease with visual pathway defect: An association or coincidence?. Indian J Paediatr Dermatol 2015;16:81-3
|How to cite this URL:|
Saha A, Mukherjee S, Seth J, Basu S. Menke's kinky hair disease with visual pathway defect: An association or coincidence?. Indian J Paediatr Dermatol [serial online] 2015 [cited 2020 Jan 22];16:81-3. Available from: http://www.ijpd.in/text.asp?2015/16/2/81/152128
| Introduction|| |
Menke's kinky hair disease (MKHD), also known as steely-hair syndrome is a lethal X-linked recessive disorder with multi systemic involvement and characteristic hair changes. The earliest manifestations of this condition occur at 3-4 months of age. Unfortunately, the prognosis of the affected individuals remains grim as they succumb to respiratory infections by the age of 3-4 years. We hereby report a classic case of Menke's disease with visual pathway defect but normal brain imaging. Importance of awareness about this rare entity lies in early and prompt diagnosis and institution of proper and effective supportive care to improve prognosis as well. The importance of regular follow-up to pick the neurodegenerative changes at the earliest cannot be over emphasized.
| Case report|| |
A 13-month-old male child born of nonconsanguineous marriage was brought with complaints of failure to thrive and inability to acquire milestones appropriate for the age. He was a late preterm (36 weeks). Child was born by normal vaginal home delivery with low birth weight and failure to cry at birth. On examination, global developmental delay was noted with no head control [Figure 1], no bi-dextrous reach and inability to achieve social smile [Figure 1]. Delayed speech and delayed tooth eruption are other presenting features. The weight and head circumference of the child were below the third percentile. The child had cherubic facies with a fair complexion and no pigmentary disturbances and abnormal hair [Figure 2]. Hair examination revealed short, sparse, hypo-pigmented, silvery, friable, wooly hairs [Figure 3].
|Figure 3: Spangled appearance of the hair with 180° twisting along the long axis of the hair|
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Systemic examination revealed hypotonia of extremities and trunk muscles. Ophthalmic examination revealed absent Menace reflex, absent visual fixation and nystagmus with normal optic disc.
A differential diagnosis of neurodegenerative disease of the brain and protein energy malnutrition was considered. Based on the hair findings along with neurodevelopmental delay the differentials considered include trichothiodystrophy, Netherton syndrome and MKHD.
Hair light microscopy showed the evidence of pili torti [Figure 4]. Routine blood investigations and abdominal ultrasonography were within normal limits. There were no metaphyseal changes of long bones on X-rays.
Investigations revealed anterior visual pathway lesions and imaging scans of the brain was normal. Specific investigations showed decreased serum ceruloplasmin - 8.40 mg% (20-60), decreased serum copper - 26 μg (60-140) and 24 h urinary copper - 22 μg/24 h (20-50).
The patient was thus diagnosed as a case of MKHD based on the clinical features and investigations along with hair microscopy.
| Discussion|| |
Neurodegenerative disorders encompass a group of disorders that is characterized by progressive developmental delay where the etiology can range from specific genetic or biochemical defects to chronic viral illness. MKHD is an X-linked recessive multisystemic lethal disorder of copper metabolism with gene loci on Xq13.3. In 1962, Menkes  first described the syndrome and 10 years later Danks  noted the association with copper metabolism and described a defect in intestinal copper transport with low serum copper and ceruloplasmin levels. It generally always affects males with no racial predilection. The first manifestations of the condition appear at around 2-3 months of age and death generally happens by 3-4 years mostly due to respiratory failure.
The predominant clinical findings are twisted, kinky, short, sparse, coarse, whitish, silver, or gray hair, eyebrows, and eyelashes. The incidence has been estimated at 1 in 114,000-1 in 250,000 live births. 
The patients with this disease are generally preterm or term delivered babies with nonspecific findings like large cephalhematomas, hypothermia, hypoglycemia, and jaundice in perinatal period. There is development of progressive hypotonia, loss of previously obtained developmental milestones, seizures, myoclonic jerks, failure to thrive, poor weight gain, loose skin, pectus excavatum, urinary bladder diverticula and the appearance of coarse short steel wool like hair with coarse facial features. The characteristic facial appearance with fair complexion, chubby cheeks, and depressed nasal bridge in our case was similar to the report of Grover et al. in the past. 
Hair manifestation is one of the important signs in this condition, which provides a clue to the diagnosis. Our patient showed short, sparse, dry, lusterless hair that on microscopic evaluation revealed a spangled appearance. The hair was fragile and fractured easily giving rise to the apparent sparseness. Pili torti is the most common hair shaft defect in this condition however several hair shaft abnormalities have been documented, which include trichorrhexis nodosa, trichoclasis, and trichoptilosis. ,
The progressive neurodegeneration in this disease usually begins at the age of about 2 months as a result of gliosis and demyelination of the cerebrum and cerebellum resulting in symptoms such as seizures, developmental regression, and muscle hypotonia and feeding difficulty, consistent with our case. Skeletal abnormalities are manifested as infantile cortical hyper-osteosis, metaphyseal widening and spurring of the long bones and a diaphyseal periosteal reaction, absent in our case.
Based on the hair characteristics associated with neurodevelopmental delay the main differentials to be thought of include MKHD, trichothiodystrophy and Netherton syndrome. However, trichothiodystrophy can be ruled out by examining the hair shaft under polarizing microscope, which reveals a tiger tail appearance and Netherton syndrome presents with other components of ichthyosis and erythroderma at birth.
The diagnostic investigation of choice is magnetic resonance imaging brain, which shows diffuse symmetrical brain matter atrophy predominantly affecting cerebellum.  Fortunately, our patient did not show such changes.
Medical care is generally symptomatic and supportive. Most of the patients succumb by the age of 3-4 years as a result of respiratory failure that is mostly due to lower respiratory tract infections.
Menke's kinky hair disease is a less identified genotrichoses due to the rarity of the condition. However, the characteristic hair microscopy finding and targeted investigations help in the diagnosis of the condition that is essential for the early management and multidisciplinary approach. With best of our knowledge, Menke's disease with visual field defect has not been reported before.
| Conclusion|| |
Menke's disease is a diagnostic challenge for the clinician because of its rarity. High index of suspicion is required for early diagnosis and effective supportive treatment to prevent further complication. Genetic counseling to prevent further offspring is also worth mentioning. Gene therapy may be a hope in the near future.
| References|| |
Menkes JH. Kinky hair disease. Pediatrics 1972;50:181-3.
Danks DM, Campbell PE, Walker-Smith J, Stevens BJ, Gillespie JM, Blomfield J, et al.
Menkes' kinky-hair syndrome. Lancet 1972;1:1100-2.
Tønnesen T, Kleijer WJ, Horn N. Incidence of Menkes disease. Hum Genet 1991;86:408-10.
Grover WD, Johnson WC, Henkin RI. Clinical and biochemical aspects of trichopoliodystrophy. Ann Neurol 1979;5:65-71.
Smith VV, Anderson G, Malone M, Sebire NJ. Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: Retrospective review of more than 300 cases from a single centre. J Clin Pathol 2005;58:1294-8.
Whiting DA. Structural abnormalities of the hair shaft. J Am Acad Dermatol 1987;16 (1 Pt 1):1-25.
Fister P, Raku J, Strazisar GB. Menkes kinky hair disease (Menkes syndrome): A case report. Acta Dermatovenerologica Alpina 2006;15:126-30.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]