BRIEF REPORTS

Adrenoleukodystrophy costeroid replacement therapy which the child was not taking regularly. In August 1993, 15 months after the diagnosis of Addison's disease was Uma Raja made, he presented with right focal fits, K.A. Krishnamurthy becoming generalized and deterioration of previously normal functions of vision, hearing and intelligence. General exami- nation revealed an alert, normally nour- (ALD) is an ished boy with diffuse hyperpigmenta- X linked disorder associated with pro- tion more marked over lips, toe and fin- gressive demyelination of cerebral white ger nails. He was groping for objects matter and adrenal insufficency. We are while walking implying impaired vision. reporting this case due to its rarity. The He spoke irrelevantly at times and first recorded example of this disorder laughed unprovoked. His cardiovascu- was by Siemerling and Creutzfeldt in lar, respiratory and abdominal systems 1923(1). The first case to be reported in were clinically normal. Power and tone an Indian child was in 1981(2). in all muscles and the sensory system Case Report was clinically normal. Fundoscopic ex- amination of both eyes were normal. Vi- A six and a half year old boy was sual acuity testing revealed right hom- brought in August '93 with the com- onymous hemianopia. plaints of , impaired vision and hearing and behavioral changes of one A clinical diagnosis of month duration. This boy was the 4th adrenoleukodystrophy was made as he child of second degree parental consan- had features of Addison's disease and guinity. The mother had 2 still births and those of cerebral degenera- has 2 female and one male child in ap- tion. The following investigations were parently normal health. The patient's done to support the diagnosis. Serum neonatal period and milestones were electrolytes showed a sodium of 120 normal. He was apparently in good meq/L, potassium of 4,6 meq/L, bicar- health till May 1992, when he developed bonate of 18 meq/L and chloride of 88 hyperpigmentation of lips, buccal mu- meq/L. Random blood sugar was 128 cosa, nails and body associated with mg/dl. Mantoux was negative and vomiting. A diagnosis of Addison's dis- VDRL was non-reactive. X-ray chest ease was made and he was put on corti- showed microcardia with normal lung fields. Serum cortisol was 3.1 mcg/dl at 8 From the Department of Pediatrics, Meenakshi AM and 2 mcg/dl at 8PM. CT scan brain Mission Hospital and Research Centre, Lake showed hypodense areas over the Area, Melur Road, Madurai 625 107. parieto-occipital areas consistent with ce- Tamilnadu. rebral white matter degeneration (Fig. 1). Reprint requests: Dr. (Mrs.) Uma Raja. Received for publication: December 22, 1993; The child is being treated with oral Accepted: November 14,1994 corticosteroids for Addison's disease

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and carbamazepine for convulsions. Al- neurological deterioration develop. Vi- though the child is free from seizures sual disturbances, deterioration in and pigmentation has almost disap- school performance behavior and peared, his vision is gradually deterio- memory are early features of this disor- rating. He has no motor deficit at der. The disease is progressive, culmi- present. nating within a few years in , blindness, quadriplegia and death(5). Discussion Neurological manifestations may pre- ALD (adrenotesticuloleukomyelo- cede, follow or occur concomittantly neuropathic complex) is an x linked in- with symptoms of adrenocortical insuffi- herited disorder with considerable phe- ciency. Reduced adrenocortical reserve notypic variation(3). The defective gene may be demonstrable even in children is located on the long arm of the x chro- without clinical manifestations of the mosome (x q27-q28). It is due to a defi- disorder. In this child the symptoms bf ciency of peroxisomal enzyme that adrenocortical insufficiency preceded oxidises the very long chain fatty acids the onset of neurological manifestations. (C24:C26 Hexicosanoic acid)(4). The most common form occurs in childhood Adrenomyeloneuropathy is the sec- when progressive adrenal failure, sei- ond most commonly observed pheno- zures, , impaired hearing and type presenting with signs of

Fig. 1. CT scan brain-contrast study shows hypodense areas in parito-ocipital region in white matter close to the gyrus, consistent with . The sulci and gyri appear normal.

1017 BRIEF REPORTS myelopathy with progressive Therapy is directed towards control polyneuropathy and bladder dysfunc- of seizures with anticonvulsants and tion(3,5). Neonatal ALD has also been glucocorticoid replacement therapy. In x described though it must be sharply dif- linked ALD, dietary restriction of very ferentiated from the x linked disorder(6). long chain fatty acids and addition of Ohno et al. have reported a sporadic in- glycerol trioleate to the diet has lowered stance of ALD presenting as olivo the plasma levels but has had only a pontocerebellar atrophy, illustrating marginal clinical effect. A pilot study how variable the symptomatology of the has shown that addition of disorder can be(7). (C22:l) to this regime normalizes the The important laboratory findings plasma very long chain fatty acids. are low serum sodium and chloride lev- However, the long term clinical and bio- els and elevated potassium levels reflect- chemical outcome of this therapy is not ' ing the atrophy of the adrenal glands. clear(9). marrow transplantation The latter results in reduced excretion of has been done in one case of X-linked corticosteroids, low serum cortisol levels ALD(10). and lack of rise in 17 hydroxy-ketoster- REFERENCES oids after ACTH stimulation. CSF pro- tein may be elevated. Massive degenera- 1. Adams RD, Victor M. Inherited meta- bolic disorders of the nervous system- tion of occurs often asymmetri- Sudanophilic leukodystrophy with cally in various parts of the cerebrum, bronzing of skin and adrenal atrophy. brain stem, optic and sometimes In: Principles of Neurology, 5th edn. spinal cord. The cortex of the adrenal New York, Me Graw Hill Inc 1993, pp glands is atrophic and the cells and in- 840-841. vading histiocytes contain an abnormal 2. Desai M, Khatri JV, Pandit lipid material. The testes show marked AN. Adrenoleukodystrophy. interstitial fibrosis and atrophy of semin- Indian Pediatr 1981,18:127-130. iferous tubules. Electronmicroscopically 3. Powers JM. Adrenoleukodystrophy electrodense leaflets enclosing an (adreno-esticuloleukomyelone electrolucent space are found in cerebral uropathic complex). Clinical Neuro- white matter, peripheral nerves, adrenal pathology 1985, 4:181-189. cortex and Leydig cells of testes(l). 4. Moser HW, Moser AB, Kawanmura N, There is increased accumulation of C26- et al. ALD: Studies of the phenotype, C30 fatty acids in the involved tissues. genetics and biochemistry. Johns The C26: C22 ratio in mothers of ALD Hopkins Med J 1980. 147: 217. patients was between that found in pa- 5. Moser HW, Naidu S, Kumar AJ, tients and controls(4). There is impaired Rosenbaum AE. The Adrenoleuko- oxidation of very long chain fatty acids dystrophies. Crit Rev Neurobiol 1987, in leukocytes, cultured skin fibroblasts 5: 29-88. and amniocytes. This method should al- 6. Kelley RI, Datta NS, Dobyns WS, et al. low diagnosis of patients from only a Neonatal adrenoleukodystrophy: New skin biopsy and allow prenatal diagnosis cases, biochemical studies and differ in cultured amniotic fluid cells from at entiation from Zellweger related per- risk pregnancies(8). oxisomal polydystrophy syndromes.

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Am J Med Genet 1986, 23: 869-901. 9. Rizzo WB, Leshner RT, Odone A, et al. 7. Ohno T, Tsuchida H, Fukuhara N, et Dietary erucic acid therapy for x- al. Adrenoleukodystrophy: A clinical linked adrenoleukodystrophy. Neurol- variant presenting as olivo ogy 1989, 39:1415-1422. pontocerebellar atrophy. J Neurol 10. Auborg P, Blanche S, Janbaque I, et al. 1984,231:167 Reversal of early neurologic and 8. Moser HW, Moser AE, Trojak JE, et al. neuroradiologic manifestations of x- Identification of female carriers of linked adrenoleukodystrophy by bone adrenoleukodystrophy. J Pediatr 1983, marrow transplantation. N Engl J Med 103: 54. 1990, 322:1860-1866.

Noma Neonatorum cases along with review of literature. Case Reports Case 1: A male baby, first of twins, N.C. Prajapati was delivered vaginally at 34-36 weeks P. Chaturvedi of gestation with a birth weight of 1340 g R.R. Bhowate and Apgar score of 9, 10 and 10 at 1, 5 S. Mishra and 10 minutes, respectively to a second gravida. The second male twin weighed 1240 g. Both of them were kept in Special Care Neonatal Unit (SCNU) and fed Noma, a Greek word meaning to 'de expressed breastmilk (EBM) by vour' was described by Tourdes in 1848 nasogastric (NG) tube. as reported by Tempset(l). The term On 8th postnatal day, the first of the noma neonatorum (NN) was coined by twins developed induration of lips and Ghosal et al. in 1977(2). It is a rare gan- erythema of labial, palatal and alveolar grenous disease, that results in mutilat- mucosa with few black spots on the gum ing loss of tissue. We report two such pad. Intravenous benzyl penicillin, gentamicin and metronidazole were From the Neonatal Unit, Departments of Pediat- started after taking samples for culture. rics and Dental Surgery, Mahatma Gandhi Institute of Medical Sciences, Sevagram, By 10th day, there was conjunctivitis of Wardha 442 102. both eyes and vesicular necrotic lesions Reprint requests: Dr. N.C. Prajapati, Reader in developed in the groin. In view of clini- Pediatrics and Incharge Neonatal Unit, M.G. cal deterioration, nasogastric feeds were Institute of Medical Sciences, Sevagram, discontinued and cefotaxime was added Wardha 442 102. to the therapy. Sclerema along with Received for publication: August 3, 1994; erythema and edema of the scrotum Accepted: November 4, 1994 were also noticed. Culture reports (taken

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