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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 1999  |  Volume : 10  |  Issue : 2  |  Page : 171-174
Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report


Department of Pediatrics, King Hussein Medical Center, Amman, Jordan

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   Abstract 

Galloway-Mowat Syndrome (GMS) has a wide variety of clinical manifestations and histologic findings. All reported cases had developed nephrotic syndrome in the first two years of life. We report a case of 12 years old boy with microcephaly, mental retardation, and typical dysmorphic features of GMS with a late onset of minimal change nephritic syndrome which first manifested at seven years of age.

How to cite this article:
Hazza I, Najada AH. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report. Saudi J Kidney Dis Transpl 1999;10:171-4

How to cite this URL:
Hazza I, Najada AH. Late-Onset Nephrotic Syndrome in Galloway-Mowat Syndrome: A Case Report. Saudi J Kidney Dis Transpl [serial online] 1999 [cited 2020 Feb 24];10:171-4. Available from: http://www.sjkdt.org/text.asp?1999/10/2/171/37226

   Introduction Top


The Galloway-Mowat syndrome (GMS) is a rare inherited disorder characterized by congenital microcephaly with hypotonia and developmental delay, hiatus hernia, and nephritic syndrome. [1] The nephritic syndrome in GMS has a wide variation in the time of onset and histologic patterns, but usually start at, or before the age of two years, [1],[2] In this report we describe a boy with GMS who had developed the nephritic syndrome, for the first time, at the age of seven years. This late onset of the nephritic syndrome in GMS, to our knowledge, has not been reported before.


   Case Report Top


A 12 years old boy referred to our center for follow-up as a case of steroid dependent nephritic syndrome. His parents are cousins and have four healthy siblings. His birth was at a full term through normal vaginal delivery, with a birth weight of 2.8 kg. His neonatal life was remarkable for hypotonia and bilateral hip dislocation. In this early childhood, the patient had severe delay in developmental skills. The nephritic syndrome was diagnosed at the age of seven years. At presentations, the 24-hour urine collection contained 10.5 grams of protein, serum Albumin was 12 g/L. serum cholesterol as 6.7 mmol/L, Serum creatinine was 60 µmol/L, and C3 and C4 and antinuclear antibodies (ANA) were normal. The patient had received oral prednisolone Therapy. The physical examination showed a child with subnormal mentality. His weight was below 5 th percentile. His heads circumference was 48 cm (below 3 rd percentile), with abnormal shaped skull, narrow forehead, large and low set ears, micrognathia with malocclusion and a moon shaped face, [Figure - 1],[Figure - 2].

Renal ultrasound was normal Brain computerized tomography scan showed diffuse cortical atrophy with dilatation of ventricular system. Kidney biopsy was done and was consistent with minimal change nephritic syndrome, [Figure - 3],[Figure - 4].


   Discussion Top


Galloway and Mowat first described the constellation of microcephaly, hiatus hernia, and early onset nephritic syndrome in 1968.[1] Since then 25 additional patients with microcephaly, early onset nephritic syndrome and various neurologic abnormalities have been reported. [2],[3],[4],[5] Hou has recently reported the presence of arachnodactyly in two Chinese female infants who had this syndrome. [2] Hiatus hernia was reported only in the two original cases of Galloway-Mowat syndrome. Infantile spasm was the commonest type of seizure. [6],[7]

The dysmorphic features of GMS previously documented were summarized by Cohen et al. [8] They included, according to frequency, large floppy ears, low set ears, narrow forehead, abnormally shaped skull, micro­gnathia, and coarse hair. In addition to these dysmorphic features, our patient had camtodactyly and cushinoid appearance. The latter was probably due to prolonged steroid therapy. Though these dysmorphic features are not specific, nevertheless they suggest the diagnosis.

Clinically our patient had GMS but differed from all previous reported cases regarding onset of nephritic syndrome. He developed nephritic syndrome at age of seven years, while all previous eases developed nephritic syndrome within the first two years of life. Furthermore, our patient is now 12 years old, while most patients with GMS died within two years after onset of nephritic syndrome.

There is no uniform of renal histologic changes. Cohen et al, reviewed 22 cases of GMS reported in the literature and subdivided them into two groups according to age of onset of nephritic syndrome; those of age. [8] In the younger age group, most of the patients had diffuse mesangial sclerosis, while some had either focal sclerosis or mesangial proliferation with microcystic changes. The patients in this group had rapid deterioration of renal function and ides within one year. [4],[9],[10],[11],[12] The patients in the older age group were diagnosed in the period from seven months to two years of age and had better outcome. The commonest histologic findings reported were focal glomerulosclerosis. [6],[10],[13] followed by minimal change disease [1] and diffuse mesangial sclerosis. [14] So, it appears that there is no specific age-related renal histologic pattern.

Histologically, out patients closely resembled the original two cases of GMS by having minimal change nephrotic syndrome with widespread hyaline droplet change in the proximal tubules.

In conclusion our patient may represent a new variant of GMS. This variation might be due to the heterogeneous nature of this syndrome.

 
   References Top

1.Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephritic syndrome in two sibs. J Med Genet 1968,5:319-21.  Back to cited text no. 1  [PUBMED]  
2.Hou JW, Wang TR. Galloway-Mowat syndrome in Taiwa. Am J Med Genet 1965;58(3):245-8.  Back to cited text no. 2    
3.Kingo R, Battin M, Solimano A, Phang M, Mcgillivray B, Further case of Galloway­Mowat syndrome of abnormal gyral patterns and glomerulopathy. (letter) Am J Med Genet 1997;69(4):431.  Back to cited text no. 3    
4.Robain O, Deonna T. Pachygyria and congenital nephrotsisi disorder of migration and neuronal arientation. Acta Neuropathol Berl 1983;60:137-41.  Back to cited text no. 4  [PUBMED]  
5.Robain O, Lyib G. Familial microcephalies due to cerebral malformation. Anatomical and clinical study. Acta Neuropathol (Berl) 1972;20:96-109.  Back to cited text no. 5    
6.roos RA, Maaswinkel-Mooy PD, v.d. Loo EM, Kanhai HH. Congenital microcephaly, infatile spasms, psychomotor retardation and nephritic syndrome in two sibe. Eur J Pediatr 1987;146:532-6.  Back to cited text no. 6    
7.Joh K, Usui N, Aizawa S, et al. Focal segmental glomerulosclerosis associated with infantile spasms in five mentally retarded children: a morphological analysis on mesangiolysis. Am J Kidney Dis 1991;17:569-77.  Back to cited text no. 7  [PUBMED]  
8.Cohen AH, urner MC. Kidney in Galloway­Mowat syndrome: clinical spectrum with description of pathology. Kidney Int 1994;45:1407-15.  Back to cited text no. 8  [PUBMED]  
9.Kiskimies O, Sariola H, Holmberg C, Rapola J. Clinical quiz. Conginital nephritic syndrome, microcephaly, brain malformation and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis. Pediatr Nephrol 1991;5:433-5.  Back to cited text no. 9    
10.Gauselus J, Leverger G, Rault G, et al. Association of early onset nephrtoic syndrome and mecrocephaly. Appropos of 4 cases in 2 families. Arch Fr Pediatr 1984;41:409-15.  Back to cited text no. 10    
11.Garty BZ, Eisenstein B, Sandbank J, Kaffe S, Dagan R, Gadoth N. Microcephaly and congenital nephritic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. J Med Genet 1994; 31:121-5.  Back to cited text no. 11  [PUBMED]  
12.Shapiro LR, Duncan PA, Farnsworth PB, Lefkowitz M. Congenital microcephal, hiatus hernia and nephritic syndrome: an autosomal recessive syndrome. Birth Defects 1976;12:275-8.  Back to cited text no. 12  [PUBMED]  
13.Yalcinkaya F, turner N, Ekim M, et al. Congenital microcephaly and infantile nephritic syndrome - a case report pediatr Nephrol 1994;8:72-3.  Back to cited text no. 13    
14.Cooperstone BG, Friedman A, Kaplan BS. Galloway-Mowat Syndrome of abnormal gyral pattern and glomerulopathy. Am J Med Genet 1993;47:250-4.  Back to cited text no. 14  [PUBMED]  

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Correspondence Address:
Issa Hazza
Department of Pediatric, King Hussein Medical Center, P.O. Box 960955, Amman 11196
Jordan
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PMID: 18212429

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  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]



 

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    Abstract
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    References
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